Michael Steven Hershfield
Professor of Medicine
Molecular Basis and Therapy of Inherited Disorders of Purine Metabolism
ABSTRACT
We have a longstanding interest in inherited disorders of purine metabolism. Our primary focus has been the combined immunodeficiency disease caused by inherited deficiency of adenosine deaminase (ADA) and purine nucleoisde phosphorylase (PNP). In addition to these rare recessive disorders, we have maintained an interest in gout, the most common purine metabolic disease. We have also investigated the biochemistry, metabolism, and biological effects of nucleoside analogs, including their use for treating neoplastic and viral diseases.
During our first decade at Duke we studied the biochemical mechanisms responsible for immune deficiency caused by ADA and PNP deficiency. We subsequently investigated the operation of these mechanisms in vivo in ADA-deficient patients and in collaboarative studies of ADA knockout mice. We have defined the molecular basis for the interaction between human ADA and CD26/Dipeptidyl Peptidase IV (DPPIV), a cell membrane associated multifunctional glycoprotein, also known as the adenosine deaminase complexing protein. This work has cast doubt on the postulated role of the ADA-DPPIV complex, or "ecto-ADA", in normal immune function.
Twenty-five years ago, in collaboration with Dr. Rebecca Buckley, we initiated, and subsequently played a central role in the clinical development of polyethylene glycol (PEG)-modified adenosine deaminase (PEG-ADA) as replacement therapy for severe combined immunodeficiency disease (SCID) due to ADA deficiency. PEG-ADA was the first PEG-modified therapeutic agent to receive USFDA approval (in 1990), and the first effective form of enzyme replacement therapy for an inherited metabolic disease. We have also collaboarated in evaluating the metabolic efficacy of stem cell transplantation and stem cell gene therapy for treating ADA- SCID. In connection with this work, we have systematically investigated the mutational basis for ADA deficiency, and the relationship between genotype and phenotype. We have written reviews on the treatment of ADA deficiency, and major textbook chapters dealing with ADA and PNP deficiency, and other inherited diseases of purine metabolism. Over the past 3 decades we have continued to serve as a resource for establishing the diagnosis of ADA and PNP deficiency, and to monitor the metabolic effects of PEG-ADA therapy and the immunoe response to PEG-ADA in patients with ADA deficiency in the US and over 20 other countries.
During the past two decades we have been engaged in translational research to develop a PEGylated recombinant urate oxidase (Pegloticase, Krystexxa) as an Orphan Drug for treating patients with refractory gout and poorly controlled hyperuricemia. We demonstrated the effectiveness of Pegloticase in preventing uric acid nephropathy in a urate oxidase knockout mouse model, and have participated with John Sundy and other members of the Duke Rheumatology division in the first in-human phase 1 clinical trials of Pegloticase in patients with refractory gout. We subsequently obtained support from the USFDA Office of Orphan Products Development to conduct a Phase II clinical study of Pegloticase in order to optimize dosing and assess the potential effects of profoundly reducing serum uric acid levels on oxidative stress status. In 2010 Pegloticase was one of 21 new drugs to receive FDA approval. We are presently investigating the immune response to Pegloticase, which we have shown to be directed at the PEG polymer rather than the uricase protein.
Keywords: human genetic disease; enzyme replacement therapy; polyethylene glycol modified enzymes; mutation; immune deficiency disease; ADA deficiency; purine nucleoside phosphorylase deficiency; gout
ABSTRACT
We have a longstanding interest in inherited disorders of purine metabolism. Our primary focus has been the combined immunodeficiency disease caused by inherited deficiency of adenosine deaminase (ADA) and purine nucleoisde phosphorylase (PNP). In addition to these rare recessive disorders, we have maintained an interest in gout, the most common purine metabolic disease. We have also investigated the biochemistry, metabolism, and biological effects of nucleoside analogs, including their use for treating neoplastic and viral diseases.
During our first decade at Duke we studied the biochemical mechanisms responsible for immune deficiency caused by ADA and PNP deficiency. We subsequently investigated the operation of these mechanisms in vivo in ADA-deficient patients and in collaboarative studies of ADA knockout mice. We have defined the molecular basis for the interaction between human ADA and CD26/Dipeptidyl Peptidase IV (DPPIV), a cell membrane associated multifunctional glycoprotein, also known as the adenosine deaminase complexing protein. This work has cast doubt on the postulated role of the ADA-DPPIV complex, or "ecto-ADA", in normal immune function.
Twenty-five years ago, in collaboration with Dr. Rebecca Buckley, we initiated, and subsequently played a central role in the clinical development of polyethylene glycol (PEG)-modified adenosine deaminase (PEG-ADA) as replacement therapy for severe combined immunodeficiency disease (SCID) due to ADA deficiency. PEG-ADA was the first PEG-modified therapeutic agent to receive USFDA approval (in 1990), and the first effective form of enzyme replacement therapy for an inherited metabolic disease. We have also collaboarated in evaluating the metabolic efficacy of stem cell transplantation and stem cell gene therapy for treating ADA- SCID. In connection with this work, we have systematically investigated the mutational basis for ADA deficiency, and the relationship between genotype and phenotype. We have written reviews on the treatment of ADA deficiency, and major textbook chapters dealing with ADA and PNP deficiency, and other inherited diseases of purine metabolism. Over the past 3 decades we have continued to serve as a resource for establishing the diagnosis of ADA and PNP deficiency, and to monitor the metabolic effects of PEG-ADA therapy and the immunoe response to PEG-ADA in patients with ADA deficiency in the US and over 20 other countries.
During the past two decades we have been engaged in translational research to develop a PEGylated recombinant urate oxidase (Pegloticase, Krystexxa) as an Orphan Drug for treating patients with refractory gout and poorly controlled hyperuricemia. We demonstrated the effectiveness of Pegloticase in preventing uric acid nephropathy in a urate oxidase knockout mouse model, and have participated with John Sundy and other members of the Duke Rheumatology division in the first in-human phase 1 clinical trials of Pegloticase in patients with refractory gout. We subsequently obtained support from the USFDA Office of Orphan Products Development to conduct a Phase II clinical study of Pegloticase in order to optimize dosing and assess the potential effects of profoundly reducing serum uric acid levels on oxidative stress status. In 2010 Pegloticase was one of 21 new drugs to receive FDA approval. We are presently investigating the immune response to Pegloticase, which we have shown to be directed at the PEG polymer rather than the uricase protein.
Keywords: human genetic disease; enzyme replacement therapy; polyethylene glycol modified enzymes; mutation; immune deficiency disease; ADA deficiency; purine nucleoside phosphorylase deficiency; gout
Current Appointments & Affiliations
- Professor of Medicine, Medicine, Rheumatology and Immunology, Medicine 1990
- Professor of Biochemistry, Biochemistry, Basic Science Departments 2001
Contact Information
- 418 Sands Building, Durham, NC 27710
- Duke Box 3049, Durham, NC 27710
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michael.hershfield@duke.edu
(919) 684-4184
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NIH Biosketch
- Background
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Education, Training, & Certifications
- Resident, Medicine, University of California San Francisco, School of Medicine 1974 - 1975
- M.D., University of Pennsylvania 1967
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Previous Appointments & Affiliations
- Assistant Professor of Biochemistry, Biochemistry, Basic Science Departments 1994 - 2001
- Associate Professor of Medicine, Medicine, Clinical Science Departments 1980 - 1990
- Assistant Professor of Medicine, Medicine, Clinical Science Departments 1976 - 1980
- Research
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Selected Grants
- Non-Registry Agreement Clinical Trial awarded by Chiesi USA, Inc 2022 - 2025
- Leadiant Monitoring Agreement awarded by Leadiant Biosciences, Inc. 2018 - 2023
- Leadiant Non-Patient Monitoring Agreement awarded by Leadiant Biosciences, Inc. 2019 - 2022
- Orchard Agreement awarded by Orchard Therapeutics 2019 - 2021
- Training Program in Inflammatory and Immunological Diseases awarded by National Institutes of Health 1980 - 2017
- PEG-uricase as Therapy for Refractory Gout IND#11274 awarded by Food and Drug Administration 2004 - 2009
- A Lymphoblast Model for Diseases of Purine Metabolism awarded by National Institutes of Health 1978 - 2007
- BIACORE 3000 Biosensor awarded by National Institutes of Health 2002 - 2003
- Lymphoblast Model For Diseases Of Purine Metabolism awarded by National Institutes of Health 1978 - 2002
- A Lymphoblast Model For Diseases Of Metabolism awarded by National Institutes of Health 1992 - 1994
- A Lynphoblast Model For Diseases Of Purine Metabolism awarded by National Institutes of Health 1988 - 1991
- A Lymphoblast Model For Diseases Of Purine Metabolism awarded by National Institutes of Health 1984 - 1985
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External Relationships
- Chiesi USA (Chiesi Global Rare Diseases)
- Horizon Therapeutics (formerly Horizon Pharmaceuticals)
- Orchard Therapeutics
- Sigma-Tau Pharmaceuticals (now Leadiant BioSciences)
- Publications & Artistic Works
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Selected Publications
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Academic Articles
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Gburek-Augustat, Janina, Konrad Platzer, Isabell Schumann, Sven Starke, Michael Steven Hershfield, Ina Sorge, and Andreas Merkenschlager. “Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy.” Neuropediatrics 53, no. 6 (December 2022): 432–35. https://doi.org/10.1055/a-1896-5817.Full Text Link to Item
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Hartog, Nicholas, Michael Hershfield, Thomas Michniacki, Shawn Moloney, Amanda Holsworth, Isabel Hurden, Mary Fredrickson, Mary Kleyn, Kelly Walkovich, and Elizabeth Secord. “Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency.” Ann Allergy Asthma Immunol 129, no. 6 (December 2022): 776-783.e2. https://doi.org/10.1016/j.anai.2022.07.016.Full Text Link to Item
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Hashem, Hasan, Giorgia Bucciol, Seza Ozen, Sule Unal, Ikbal Ok Bozkaya, Nurten Akarsu, Mervi Taskinen, et al. “Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.” J Clin Immunol 42, no. 7 (October 2022): 1580–81. https://doi.org/10.1007/s10875-022-01280-y.Full Text Link to Item
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Cuvelier, Geoffrey D. E., Brent R. Logan, Susan E. Prockop, Rebecca H. Buckley, Caroline Y. Kuo, Linda M. Griffith, Xuerong Liu, et al. “Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.” Blood 140, no. 7 (August 18, 2022): 685–705. https://doi.org/10.1182/blood.2022016196.Full Text Link to Item
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Moi, Laura, Caroline Schnider, Orbicia Riccio, Michael S. Hershfield, and Fabio Candotti. “Common Variable Immunodeficiency in a Carrier of the ADA2 R169Q Variant: Coincidence or Causality?” J Clin Immunol 42, no. 5 (July 2022): 959–61. https://doi.org/10.1007/s10875-022-01271-z.Full Text Link to Item
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Ozer, Imran, Garrett Kelly, Renpeng Gu, Xinghai Li, Nikita Zakharov, Parul Sirohi, Smita K. Nair, et al. “Polyethylene Glycol-Like Brush Polymer Conjugate of a Protein Drug Does Not Induce an Antipolymer Immune Response and Has Enhanced Pharmacokinetics than Its Polyethylene Glycol Counterpart.” Adv Sci (Weinh) 9, no. 11 (April 2022): e2103672. https://doi.org/10.1002/advs.202103672.Full Text Link to Item
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Tarrant, T. K., Susan J. Kelly, and Michael S. Hershfield. “Elucidating the pathogenesis of adenosine deaminase 2 deficiency: current status and unmet needs.” Expert Opinion on Orphan Drugs 9, no. 11–12 (March 28, 2022): 257–64. https://doi.org/10.1080/21678707.2021.2050367.Full Text Open Access Copy
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Tarrant, T. K., Susan J. Kelly, and Michael S. Hershfield. “Elucidating the pathogenesis of adenosine deaminase 2 deficiency: current status and unmet needs.” Expert Opinion on Orphan Drugs 9, no. 11–12 (March 28, 2022): 257–64. https://doi.org/10.1080/21678707.2021.2050367.Full Text Open Access Copy
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Lee, Pui Y., Zhengping Huang, Michael S. Hershfield, and Peter A. Nigrovic. “Response to: 'Total adenosine deaminase highly correlated with adenosine deaminase 2 activity in serum' by Gao et al.” Ann Rheum Dis 81, no. 2 (February 2022): e31. https://doi.org/10.1136/annrheumdis-2020-217055.Full Text Link to Item
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Barzaghi, Federica, Maria Pia Cicalese, Matteo Zoccolillo, Immacolata Brigida, Matteo Barcella, Ivan Merelli, Claudia Sartirana, et al. “Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency.” Front Immunol 13 (2022): 910021. https://doi.org/10.3389/fimmu.2022.910021.Full Text Link to Item
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Jee, Hyuk, Zhengping Huang, Samantha Baxter, Yuelong Huang, Maria L. Taylor, Lauren A. Henderson, Sofia Rosenzweig, et al. “Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.” J Allergy Clin Immunol 149, no. 1 (January 2022): 379–87. https://doi.org/10.1016/j.jaci.2021.04.034.Full Text Link to Item
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Betrains, A., F. Staels, L. Moens, S. Delafontaine, M. S. Hershfield, D. Blockmans, A. Liston, et al. “Diagnosis of deficiency of adenosine deaminase type 2 in adulthood.” Scand J Rheumatol 50, no. 6 (November 2021): 493–96. https://doi.org/10.1080/03009742.2021.1881156.Full Text Link to Item
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Yap, Jin Yan, Leen Moens, Ming-Wei Lin, Alisa Kane, Anthony Kelleher, Catherine Toong, Kathy H. C. Wu, et al. “Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.” J Clin Immunol 41, no. 8 (November 2021): 1915–35. https://doi.org/10.1007/s10875-021-01141-0.Full Text Link to Item
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Baloh, Carolyn H., Samiksha A. Borkar, Kai-Fen Chang, Jiqiang Yao, Michael S. Hershfield, Suhag H. Parikh, Donald B. Kohn, Maureen M. Goodenow, John W. Sleasman, and Li Yin. “Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy.” J Clin Immunol 41, no. 7 (October 2021): 1597–1606. https://doi.org/10.1007/s10875-021-01034-2.Full Text Link to Item
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Hashem, Hasan, Giorgia Bucciol, Seza Ozen, Sule Unal, Ikbal Ok Bozkaya, Nurten Akarsu, Mervi Taskinen, et al. “Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.” J Clin Immunol 41, no. 7 (October 2021): 1633–47. https://doi.org/10.1007/s10875-021-01098-0.Full Text Link to Item
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Ferriani, Mariana P. L., Elvis T. Valera, Graziella R. de Sousa, Paula Sandrin-Garcia, Ronald R. de Moura, Michel S. Hershfield, and Luciana M. de Carvalho. “ADA2 deficiency (DADA2) associated with Evans syndrome and a severe ADA2 genotype.” Rheumatology (Oxford) 60, no. 7 (July 1, 2021): e237–39. https://doi.org/10.1093/rheumatology/keab011.Full Text Link to Item
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Kohn, Donald B., Claire Booth, Kit L. Shaw, Jinhua Xu-Bayford, Elizabeth Garabedian, Valentina Trevisan, Denise A. Carbonaro-Sarracino, et al. “Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency.” N Engl J Med 384, no. 21 (May 27, 2021): 2002–13. https://doi.org/10.1056/NEJMoa2027675.Full Text Link to Item
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Brooks, Joel P., Andrew J. Rice, Weizhen Ji, Stephen M. Lanahan, Monica Konstantino, Jasmeen Dara, Michael S. Hershfield, et al. “Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2).” J Clin Immunol 41, no. 3 (April 2021): 680–83. https://doi.org/10.1007/s10875-020-00940-1.Full Text Link to Item
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Schnappauf, Oskar, Natalia Sampaio Moura, Ivona Aksentijevich, Monique Stoffels, Amanda K. Ombrello, Patrycja Hoffmann, Karyl Barron, et al. “Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2.” Arthritis Rheumatol 73, no. 3 (March 2021): 512–19. https://doi.org/10.1002/art.41549.Full Text Link to Item
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Sharma, Aman, Gsrsnk Naidu, Vikas Sharma, Saket Jha, Aaadhar Dhooria, Varun Dhir, Prateek Bhatia, et al. “Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India.” Arthritis Rheumatol 73, no. 2 (February 2021): 276–85. https://doi.org/10.1002/art.41500.Full Text Link to Item
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Suri, Deepti, Amit Rawat, Ankur Kumar Jindal, Pandiarajan Vignesh, Anju Gupta, Rakesh Kumar Pilania, Vibhu Joshi, et al. “Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.” Front Immunol 12 (2021): 630691. https://doi.org/10.3389/fimmu.2021.630691.Full Text Link to Item
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Tarrant, T. K., S. J. Kelly, and M. S. Hershfield. “Elucidating the pathogenesis of adenosine deaminase 2 deficiency: current status and unmet needs.” Expert Opinion on Orphan Drugs 9, no. 11–12 (January 1, 2021): 257–64. https://doi.org/10.1080/21678707.2021.2050367.Full Text Open Access Copy
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Al-Saud, Bandar, Zainab Al Alawi, Faisal Bin Hussain, Michael Hershfield, Fowzan S. Alkuraya, and Sulaiman M. Al-Mayouf. “A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.” J Clin Immunol 40, no. 6 (August 2020): 833–39. https://doi.org/10.1007/s10875-020-00800-y.Full Text Link to Item
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Schnappauf, Oskar, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl Barron, et al. “Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.” J Clin Immunol 40, no. 6 (August 2020): 917–26. https://doi.org/10.1007/s10875-020-00817-3.Full Text Link to Item
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Grunebaum, Eyal, Brenda Reid, Ahmed Naqvi, Michael S. Hershfield, Vy Hong-Diep Kim, Matthew P. Muller, Lisa K. Hicks, Erika Lee, Stephen Betschel, and Chaim M. Roifman. “Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy.” Clin Immunol 211 (February 2020): 108321. https://doi.org/10.1016/j.clim.2019.108321.Full Text Link to Item
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Lee, Pui Y., Grant S. Schulert, Scott W. Canna, Yuelong Huang, Jacob Sundel, Ying Li, Kacie J. Hoyt, et al. “Adenosine deaminase 2 as a biomarker of macrophage activation syndrome in systemic juvenile idiopathic arthritis.” Ann Rheum Dis 79, no. 2 (February 2020): 225–31. https://doi.org/10.1136/annrheumdis-2019-216030.Full Text Link to Item
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Kisla Ekinci, Rabia Miray, Sibel Balci, Michael Hershfield, Atil Bisgin, Dilek Dogruel, Derya Ufuk Altintas, and Mustafa Yilmaz. “Deficiency of adenosine deaminase 2: a case series revealing clinical manifestations, genotypes and treatment outcomes from Turkey.” Rheumatology (Oxford) 59, no. 1 (January 1, 2020): 254–56. https://doi.org/10.1093/rheumatology/kez260.Full Text Link to Item
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Göschl, Lisa, Stefan Winkler, Jasmin Dmytrus, Raul Jimenez Heredia, Heimo Lagler, Michael Ramharter, Clemens Scheinecker, et al. “Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.” J Clin Immunol 40, no. 1 (January 2020): 223–26. https://doi.org/10.1007/s10875-019-00700-w.Full Text Link to Item
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Vignesh, Pandiarajan, Amit Rawat, Rajni Kumrah, Ankita Singh, Anjani Gummadi, Madhubala Sharma, Anit Kaur, et al. “Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.” Front Immunol 11 (2020): 619146. https://doi.org/10.3389/fimmu.2020.619146.Full Text Link to Item
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Bursill, David, William J. Taylor, Robert Terkeltaub, Abhishek Abhishek, Alexander K. So, Ana Beatriz Vargas-Santos, Angelo Lino Gaffo, et al. “Gout, Hyperuricaemia and Crystal-Associated Disease Network (G-CAN) consensus statement regarding labels and definitions of disease states of gout.” Ann Rheum Dis 78, no. 11 (November 2019): 1592–1600. https://doi.org/10.1136/annrheumdis-2019-215933.Full Text Link to Item
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Chong-Neto, Herberto Jose, Gesmar Rodrigues Silva Segundo, Márcia Bandeira, Débora Carla Chong-Silva, Cristine Secco Rosário, Carlos A. Riedi, Michael S. Hershfield, Hans Ochs, Troy Torgerson, and Nelson Augusto Rosário. “Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency.” J Clin Immunol 39, no. 8 (November 2019): 842–45. https://doi.org/10.1007/s10875-019-00697-2.Full Text Link to Item
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Moreno, Angelo, George A. Pitoc, Nancy J. Ganson, Juliana M. Layzer, Michael S. Hershfield, Alice F. Tarantal, and Bruce A. Sullenger. “Anti-PEG Antibodies Inhibit the Anticoagulant Activity of PEGylated Aptamers.” Cell Chem Biol 26, no. 5 (May 16, 2019): 634-644.e3. https://doi.org/10.1016/j.chembiol.2019.02.001.Full Text Link to Item
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Ombrello, Amanda K., Jing Qin, Patrycja M. Hoffmann, Parag Kumar, Deborah Stone, Anne Jones, Tina Romeo, et al. “Treatment Strategies for Deficiency of Adenosine Deaminase 2.” N Engl J Med 380, no. 16 (April 18, 2019): 1582–84. https://doi.org/10.1056/NEJMc1801927.Full Text Link to Item
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Joh, Daniel Y., Zackary Zimmers, Manav Avlani, Jacob T. Heggestad, Hakan B. Aydin, Nancy Ganson, Shourya Kumar, et al. “Architectural Modification of Conformal PEG-Bottlebrush Coatings Minimizes Anti-PEG Antigenicity While Preserving Stealth Properties.” Adv Healthc Mater 8, no. 8 (April 2019): e1801177. https://doi.org/10.1002/adhm.201801177.Full Text Link to Item
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Bursill, David, William J. Taylor, Robert Terkeltaub, Masanari Kuwabara, Tony R. Merriman, Rebecca Grainger, Carlos Pineda, et al. “Gout, Hyperuricemia, and Crystal-Associated Disease Network Consensus Statement Regarding Labels and Definitions for Disease Elements in Gout.” Arthritis Care Res (Hoboken) 71, no. 3 (March 2019): 427–34. https://doi.org/10.1002/acr.23607.Full Text Link to Item
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Kohn, Donald B., Michael S. Hershfield, Jennifer M. Puck, Alessandro Aiuti, Annaliesse Blincoe, H Bobby Gaspar, Luigi D. Notarangelo, and Eyal Grunebaum. “Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.” J Allergy Clin Immunol 143, no. 3 (March 2019): 852–63. https://doi.org/10.1016/j.jaci.2018.08.024.Full Text Link to Item
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Moens, Leen, Michael Hershfield, Katrijn Arts, Ivona Aksentijevich, and Isabelle Meyts. “Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity.” Immunol Rev 287, no. 1 (January 2019): 62–72. https://doi.org/10.1111/imr.12722.Full Text Link to Item
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Alabbas, Fahad, Ghaleb Elyamany, Omar Alsharif, Michael Hershfield, and Isabelle Meyts. “Childhood Hodgkin Lymphoma: Think DADA2.” J Clin Immunol 39, no. 1 (January 2019): 26–29. https://doi.org/10.1007/s10875-019-0590-7.Full Text Link to Item
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Claassen, David, Michelle Boals, Kevin M. Bowling, Gregory M. Cooper, Jennifer Cox, Michael Hershfield, Sara Lewis, Marcin Wlodarski, Mitchell J. Weiss, and Jeremie H. Estepp. “Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia.” Cold Spring Harb Mol Case Stud 4, no. 6 (December 2018). https://doi.org/10.1101/mcs.a003384.Full Text Link to Item
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Arts, Katrijn, Jenna R. E. Bergerson, Amanda K. Ombrello, Morgan Similuk, Andrew J. Oler, Anahita Agharahimi, Emily M. Mace, et al. “Warts and DADA2: a Mere Coincidence?” J Clin Immunol 38, no. 8 (November 2018): 836–43. https://doi.org/10.1007/s10875-018-0565-0.Full Text Link to Item
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Kisla Ekinci, Rabia Miray, Sibel Balci, Atil Bisgin, Michael Hershfield, Bahriye Atmis, Dilek Dogruel, and Mustafa Yilmaz. “Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab.” Pediatrics 142, no. 5 (November 2018). https://doi.org/10.1542/peds.2018-0948.Full Text Link to Item
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Lee, Pui Y., Yuelong Huang, Qing Zhou, Oskar Schnappauf, Michael S. Hershfield, Ying Li, Nancy J. Ganson, et al. “Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.” J Allergy Clin Immunol 142, no. 4 (October 2018): 1363-1365.e8. https://doi.org/10.1016/j.jaci.2018.05.038.Full Text Link to Item
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Van Nieuwenhove, Erika, Stephanie Humblet-Baron, Lien Van Eyck, Lien De Somer, James Dooley, Thomas Tousseyn, Michael Hershfield, Adrian Liston, and Carine Wouters. “ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease.” Pediatrics 142, no. 3 (September 2018). https://doi.org/10.1542/peds.2017-2266.Full Text Link to Item
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Cagdas, Deniz, Pınar Gur Cetinkaya, Betül Karaatmaca, Saliha Esenboga, Cagman Tan, Togay Yılmaz, Ersin Gümüş, et al. “ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.” J Clin Immunol 38, no. 4 (May 2018): 484–93. https://doi.org/10.1007/s10875-018-0496-9.Full Text Link to Item
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Trotta, Luca, Timi Martelius, Timo Siitonen, Timo Hautala, Sari Hämäläinen, Hanna Juntti, Mervi Taskinen, et al. “ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.” J Allergy Clin Immunol 141, no. 4 (April 2018): 1534-1537.e8. https://doi.org/10.1016/j.jaci.2018.01.012.Full Text Link to Item
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Turel, Ozden, Deniz Aygun, Murat Kardas, Emel Torun, Micheal Hershfield, and Yıldız Camcıoglu. “A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation.” Pediatr Neonatol 59, no. 1 (February 2018): 97–99. https://doi.org/10.1016/j.pedneo.2016.10.008.Full Text Link to Item
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Barzaghi, Federica, Federica Minniti, Margherita Mauro, Massimiliano De Bortoli, Rita Balter, Elisa Bonetti, Ada Zaccaron, et al. “ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation.” Front Immunol 9 (2018): 2767. https://doi.org/10.3389/fimmu.2018.02767.Full Text Link to Item
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Hashem, Hasan, Ashish R. Kumar, Ingo Müller, Florian Babor, Robbert Bredius, Jignesh Dalal, Amy P. Hsu, et al. “Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.” Blood 130, no. 24 (December 14, 2017): 2682–88. https://doi.org/10.1182/blood-2017-07-798660.Full Text Link to Item
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Hashem, H., A. Vatsayan, A. Gupta, K. Nagle, M. Hershfield, and J. Dalal. “Successful reduced intensity hematopoietic cell transplant in a patient with deficiency of adenosine deaminase 2.” Bone Marrow Transplant 52, no. 11 (November 2017): 1575–76. https://doi.org/10.1038/bmt.2017.173.Full Text Link to Item
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Bucciol, Giorgia, Selket Delafontaine, Heidi Segers, Xavier Bossuyt, Michael S. Hershfield, Leen Moens, and Isabelle Meyts. “Hematopoietic Stem Cell Transplantation in ADA2 Deficiency: Early Restoration of ADA2 Enzyme Activity and Disease Relapse upon Drop of Donor Chimerism.” J Clin Immunol 37, no. 8 (November 2017): 746–50. https://doi.org/10.1007/s10875-017-0449-8.Full Text Link to Item
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Hashem, Hasan, Susan J. Kelly, Nancy J. Ganson, and Michael S. Hershfield. “Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.” Curr Rheumatol Rep 19, no. 11 (October 5, 2017): 70. https://doi.org/10.1007/s11926-017-0699-8.Full Text Link to Item
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Chang, Chia-Jung, Chien-Hsiun Chen, Bing-Mae Chen, Yu-Cheng Su, Ying-Ting Chen, Michael S. Hershfield, Ming-Ta Michael Lee, et al. “A genome-wide association study identifies a novel susceptibility locus for the immunogenicity of polyethylene glycol.” Nat Commun 8, no. 1 (September 12, 2017): 522. https://doi.org/10.1038/s41467-017-00622-4.Full Text Link to Item
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Skrabl-Baumgartner, Andrea, Barbara Plecko, Wolfgang M. Schmidt, Nadja König, Michael Hershfield, Ursula Gruber-Sedlmayr, and Min Ae Lee-Kirsch. “Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.” Pediatr Rheumatol Online J 15, no. 1 (August 22, 2017): 67. https://doi.org/10.1186/s12969-017-0193-x.Full Text Link to Item
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Schepp, Johanna, Michele Proietti, Natalie Frede, Mary Buchta, Katrin Hübscher, Jessica Rojas Restrepo, Sigune Goldacker, et al. “Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.” Arthritis Rheumatol 69, no. 8 (August 2017): 1689–1700. https://doi.org/10.1002/art.40147.Full Text Link to Item
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Shaw, Kit L., Elizabeth Garabedian, Suparna Mishra, Provaboti Barman, Alejandra Davila, Denise Carbonaro, Sally Shupien, et al. “Clinical efficacy of gene-modified stem cells in adenosine deaminase-deficient immunodeficiency.” J Clin Invest 127, no. 5 (May 1, 2017): 1689–99. https://doi.org/10.1172/JCI90367.Full Text Link to Item
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Ben-Ami, Tal, Shoshana Revel-Vilk, Rebecca Brooks, Avraham Shaag, Michael S. Hershfield, Susan J. Kelly, Nancy J. Ganson, et al. “Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.” J Pediatr 177 (October 2016): 316–20. https://doi.org/10.1016/j.jpeds.2016.06.058.Full Text Link to Item
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Hsu, Amy P., Robert R. West, Katherine R. Calvo, Jennifer Cuellar-Rodriguez, Mark Parta, Susan J. Kelly, Nancy J. Ganson, Michael S. Hershfield, Steven M. Holland, and Dennis D. Hickstein. “Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.” J Allergy Clin Immunol 138, no. 2 (August 2016): 628-630.e2. https://doi.org/10.1016/j.jaci.2016.03.016.Full Text Link to Item
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Keer, Nikky, Michael Hershfield, Thomas Caskey, and Sebastian Unizony. “Novel compound heterozygous variants in CECR1 gene associated with childhood onset polyarteritis nodosa and deficiency of ADA2.” Rheumatology (Oxford) 55, no. 6 (June 2016): 1145–47. https://doi.org/10.1093/rheumatology/kew050.Full Text Link to Item
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Ganson, Nancy J., Thomas J. Povsic, Bruce A. Sullenger, John H. Alexander, Steven L. Zelenkofske, Jeffrey M. Sailstad, Christopher P. Rusconi, and Michael S. Hershfield. “Pre-existing anti-polyethylene glycol antibody linked to first-exposure allergic reactions to pegnivacogin, a PEGylated RNA aptamer.” J Allergy Clin Immunol 137, no. 5 (May 2016): 1610-1613.e7. https://doi.org/10.1016/j.jaci.2015.10.034.Full Text Link to Item
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Schepp, Johanna, Alla Bulashevska, Wilma Mannhardt-Laakmann, Hongzhi Cao, Fang Yang, Maximilian Seidl, Susan Kelly, Michael Hershfield, and Bodo Grimbacher. “Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.” J Clin Immunol 36, no. 3 (April 2016): 179–86. https://doi.org/10.1007/s10875-016-0245-x.Full Text Link to Item
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Kiykim, A., I. E. Simsek, E. Kiykim, E. Karakoc-Aydiner, S. Baris, A. O. Ozen, M. Aydogan, I. Santisteban, M. Hershfield, and I. Barlan. “Two patients with novel missense mutation in the purine nucleoside phosphorylase gene without serious or recurrent infections.” Clinical and Experimental Neuroimmunology 7, no. 1 (February 1, 2016): 79–82. https://doi.org/10.1111/cen3.12254.Full Text
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Akar, H. H., T. Patiroglu, M. Hershfield, and M. Van Der Burg. “Combined immunodeficiencies: Twenty years experience from a single center in Turkey.” Central European Journal of Immunology 41, no. 1 (January 1, 2016): 107–15. https://doi.org/10.5114/ceji.2015.56168.Full Text
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Tartibi, Hana M., Michael S. Hershfield, and Sami L. Bahna. “A 24-Year Enzyme Replacement Therapy in an Adenosine-deaminase-Deficient Patient.” Pediatrics 137, no. 1 (January 2016). https://doi.org/10.1542/peds.2015-2169.Full Text Link to Item
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Qi, Yizhi, Antonina Simakova, Nancy J. Ganson, Xinghai Li, Kelli M. Luginbuhl, Imran Özer, Wenge Liu, Michael S. Hershfield, Krzysztof Matyjaszewski, and Ashutosh Chilkoti. “A brush-polymer conjugate of exendin-4 reduces blood glucose for up to five days and eliminates poly(ethylene glycol) antigenicity.” Nat Biomed Eng 1 (2016). https://doi.org/10.1038/s41551-016-0002.Full Text Link to Item
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Saito, Y., L. K. Stamp, K. E. Caudle, M. S. Hershfield, E. M. McDonagh, J. T. Callaghan, W. Tassaneeyakul, et al. “Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update.” Clin Pharmacol Ther 99, no. 1 (January 2016): 36–37. https://doi.org/10.1002/cpt.161.Full Text Link to Item
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Komarow, Hirsh D., Robert Sokolic, Michael S. Hershfield, Donald B. Kohn, Michael Young, Dean D. Metcalfe, and Fabio Candotti. “Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency.” Orphanet J Rare Dis 10 (December 18, 2015): 159. https://doi.org/10.1186/s13023-015-0365-z.Full Text Link to Item
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Nakazawa, Yumiko, Toshinao Kawai, Toru Uchiyama, Fumihiro Goto, Nobuyuki Watanabe, Takanobu Maekawa, Akira Ishiguro, et al. “Effects of enzyme replacement therapy on immune function in ADA deficiency patient.” Clin Immunol 161, no. 2 (December 2015): 391–93. https://doi.org/10.1016/j.clim.2015.06.011.Full Text Link to Item
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Baffelli, Renata, Lucia D. Notarangelo, Luisa Imberti, Michael S. Hershfield, Federico Serana, Ines Santisteban, Federica Bolda, Fulvio Porta, and Arnalda Lanfranchi. “Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.” J Clin Immunol 35, no. 7 (October 2015): 624–37. https://doi.org/10.1007/s10875-015-0191-z.Full Text Link to Item
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Ombrello, A., D. Stone, P. Hoffmann, A. Jones, B. Barham, K. Barron, W. Flegel, et al. “The deficiency of adenosine deaminase type 2-results of therapeutic intervention.” Pediatric Rheumatology, September 28, 2015. https://doi.org/10.1186/1546-0096-13-S1-O40.Full Text
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Genel, F., E. Ozbek, G. Ozek, C. Vergin, R. Ortac, I. Santisteban, and M. Hershfield. “Adenosine Deaminase-Deficient Severe Combined Immunodeficiency and Diffuse Large B-Cell Lymphoma.” Pediatric, Allergy, Immunology, and Pulmonology 28, no. 2 (June 1, 2015): 138–42. https://doi.org/10.1089/ped.2014.0478.Full Text
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Otsu, Makoto, Masafumi Yamada, Satoru Nakajima, Miyuki Kida, Yoshihiro Maeyama, Norikazu Hatano, Nariaki Toita, et al. “Outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning.” J Clin Immunol 35, no. 4 (May 2015): 384–98. https://doi.org/10.1007/s10875-015-0157-1.Full Text Link to Item
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Celmeli, Fatih, Doga Turkkahraman, Vedat Uygun, Giancarlo la Marca, Michael Hershfield, and Akif Yesilipek. “A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.” Pediatr Transplant 19, no. 2 (March 2015): E47–50. https://doi.org/10.1111/petr.12413.Full Text Link to Item
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Van Eyck, Lien, Michael S. Hershfield, Diana Pombal, Susan J. Kelly, Nancy J. Ganson, Leen Moens, Glynis Frans, et al. “Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.” J Allergy Clin Immunol 135, no. 1 (January 2015): 283-7.e5. https://doi.org/10.1016/j.jaci.2014.10.010.Full Text Link to Item
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Marca, Giancarlo la, Clementina Canessa, Elisa Giocaliere, Francesca Romano, Sabrina Malvagia, Silvia Funghini, Maria Moriondo, et al. “Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.” J Allergy Clin Immunol 134, no. 1 (July 2014): 155–59. https://doi.org/10.1016/j.jaci.2014.01.040.Full Text Link to Item
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Hershfield, M. S., N. J. Ganson, S. J. Kelly, E. L. Scarlett, D. A. Jaggers, and J. S. Sundy. “Induced and pre-existing anti-polyethylene glycol antibody in a trial of every 3-week dosing of pegloticase for refractory gout, including in organ transplant recipients.” Arthritis Research and Therapy 16, no. 2 (March 7, 2014). https://doi.org/10.1186/ar4500.Full Text
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Hershfield, Michael S., Nancy J. Ganson, Susan J. Kelly, Edna L. Scarlett, Denise A. Jaggers, and John S. Sundy. “Induced and pre-existing anti-polyethylene glycol antibody in a trial of every 3-week dosing of pegloticase for refractory gout, including in organ transplant recipients.” Arthritis Res Ther 16, no. 2 (March 7, 2014): R63. https://doi.org/10.1186/ar4500.Full Text Link to Item
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Zhou, Qing, Dan Yang, Amanda K. Ombrello, Andrey V. Zavialov, Camilo Toro, Anton V. Zavialov, Deborah L. Stone, et al. “Early-onset stroke and vasculopathy associated with mutations in ADA2.” N Engl J Med 370, no. 10 (March 6, 2014): 911–20. https://doi.org/10.1056/NEJMoa1307361.Full Text Link to Item
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Lawrence, Monica G., John S. Barber, Robert A. Sokolic, Elizabeth K. Garabedian, Avanti N. Desai, Michelle O’Brien, Nina Jones, et al. “Elevated IgE and atopy in patients treated for early-onset ADA-SCID.” J Allergy Clin Immunol 132, no. 6 (December 2013): 1444–46. https://doi.org/10.1016/j.jaci.2013.05.040.Full Text Link to Item
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Marca, Giancarlo la, Clementina Canessa, Elisa Giocaliere, Francesca Romano, Marzia Duse, Sabrina Malvagia, Francesca Lippi, et al. “Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.” J Allergy Clin Immunol 131, no. 6 (June 2013): 1604–10. https://doi.org/10.1016/j.jaci.2012.08.054.Full Text Link to Item
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Borte, Stephan, Jennifer Puck, Fred Lorey, Sean A. McGhee, Michael S. Hershfield, Anders Fasth, Hirokazu Kanegane, Stephan Ehl, and Carsten Speckmann. “KRECs BUT NOT TRECs IDENTIFY PATIENTS WITH DELAYED- ONSET ADENOSINE DEAMINASE (ADA) DEFICIENCY IN NEONATAL SCREENING.” Journal of Clinical Immunology 33, no. 3 (April 1, 2013): 673–673.Link to Item
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Kanegane, Hirokazu, Hiromichi Taneichi, Keiko Nomura, Taizo Wada, Akihiro Yachie, Kohsuke Imai, Tadashi Ariga, Ines Santisteban, Michael S. Hershfield, and Toshio Miyawaki. “Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency.” Pediatr Transplant 17, no. 1 (February 2013): E29–32. https://doi.org/10.1111/j.1399-3046.2012.01762.x.Full Text Link to Item
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Hershfield, M. S., J. T. Callaghan, W. Tassaneeyakul, T. Mushiroda, C. F. Thorn, T. E. Klein, and M. T. M. Lee. “Clinical Pharmacogenetics Implementation Consortium guidelines for human leukocyte antigen-B genotype and allopurinol dosing.” Clin Pharmacol Ther 93, no. 2 (February 2013): 153–58. https://doi.org/10.1038/clpt.2012.209.Full Text Link to Item
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Lawrence, M. G., J. S. Barber, R. A. Sokolic, E. K. Garabedian, A. N. Desai, M. O’Brien, N. Jones, et al. “Elevated IgE and atopy in patients treated for early-onset ADA-SCID.” Journal of Allergy and Clinical Immunology 132, no. 6 (January 1, 2013). https://doi.org/10.1016/j.jaci.2013.05.040).Full Text
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Candotti, Fabio, Kit L. Shaw, Linda Muul, Denise Carbonaro, Robert Sokolic, Christopher Choi, Shepherd H. Schurman, et al. “Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.” Blood 120, no. 18 (November 1, 2012): 3635–46. https://doi.org/10.1182/blood-2012-02-400937.Full Text Link to Item
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Speckmann, Carsten, Carla Neumann, Stephan Borte, Giancarlo la Marca, Jörn Oliver Sass, Elisabeth Wiech, Paul Fisch, et al. “Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis.” J Allergy Clin Immunol 130, no. 4 (October 2012): 991–94. https://doi.org/10.1016/j.jaci.2012.04.004.Full Text Link to Item
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大倉有. 加., 山田雅. 文., 小林一. 郎., I. SANTISTEBAN, G. ARREDONDO-SANTISTEBAN, 善一郎加. 藤., 井口晶. 裕., et al. “ADA酵素蛋白の安定性を相乗的に阻害する"WAZA-ARI"変異を認めたADA欠損症の1例.” 北海道醫學雜誌 = Acta Medica Hokkaidonensia 87, no. 4 (August 1, 2012).
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Nakaoka, Hideyuki, Hirokazu Kanegane, Hiromichi Taneichi, Kazushi Miya, Xi Yang, Keiko Nomura, Shunichiro Takezaki, et al. “Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.” Int J Hematol 95, no. 6 (June 2012): 692–96. https://doi.org/10.1007/s12185-012-1055-4.Full Text Link to Item
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Moncada-Vélez, M., A. Vélez-Ortega, J. Orrego, I. Santisteban, J. Jagadeesh, M. Olivares, N. Olaya, M. Hershfield, F. Candotti, and J. Franco. “Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.” Scand J Immunol 74, no. 5 (November 2011): 471–81. https://doi.org/10.1111/j.1365-3083.2011.02593.x.Full Text Link to Item
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Sokolic, Robert, Irina Maric, Chimene Kesserwan, Elizabeth Garabedian, I Celine Hanson, Margaret Dodds, Rebecca Buckley, et al. “Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency.” Blood 118, no. 10 (September 8, 2011): 2688–94. https://doi.org/10.1182/blood-2011-01-329359.Full Text Link to Item
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Okura, Yuka, Masafumi Yamada, Ichiro Kobayashi, Ines Santisteban, Gabriella Arredondo-Santisteban, Zenichiro Kato, Akihiro Iguchi, et al. “ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability.” Br J Haematol 153, no. 5 (June 2011): 675–76. https://doi.org/10.1111/j.1365-2141.2011.08640.x.Full Text Link to Item
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Denoble, Anna E., Kim M. Huffman, Thomas V. Stabler, Susan J. Kelly, Michael S. Hershfield, Gary E. McDaniel, R Edward Coleman, and Virginia B. Kraus. “Uric acid is a danger signal of increasing risk for osteoarthritis through inflammasome activation.” Proc Natl Acad Sci U S A 108, no. 5 (February 1, 2011): 2088–93. https://doi.org/10.1073/pnas.1012743108.Full Text Link to Item
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Hershfield, Michael S., L Jackson Roberts, Nancy J. Ganson, Susan J. Kelly, Ines Santisteban, Edna Scarlett, Denise Jaggers, and John S. Sundy. “Treating gout with pegloticase, a PEGylated urate oxidase, provides insight into the importance of uric acid as an antioxidant in vivo.” Proc Natl Acad Sci U S A 107, no. 32 (August 10, 2010): 14351–56. https://doi.org/10.1073/pnas.1001072107.Full Text Link to Item
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Artac, Hasibe, Bahar Göktürk, Sefika Elmas Bozdemir, Hatice Toy, Mirjam van der Burg, Ines Santisteban, Michael Hershfield, and Ismail Reisli. “Late-onset adenosine deaminase deficiency presenting with Heck's disease.” Eur J Pediatr 169, no. 8 (August 2010): 1033–36. https://doi.org/10.1007/s00431-009-1131-9.Full Text Link to Item
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Aytekin, Caner, Figen Dogu, Gonul Tanir, Deniz Guloglu, Ines Santisteban, Michael S. Hershfield, and Aydan Ikinciogullari. “Purine nucleoside phosphorylase deficiency with fatal course in two sisters.” Eur J Pediatr 169, no. 3 (March 2010): 311–14. https://doi.org/10.1007/s00431-009-1029-6.Full Text Link to Item
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Al-Saud, B., O. Alsmadi, S. Al-Muhsen, A. Al-Ghonaium, H. Al-Dhekri, R. Arnaout, M. S. Hershfield, and H. Al-Mousa. “A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels.” Clin Biochem 42, no. 16–17 (November 2009): 1725–27. https://doi.org/10.1016/j.clinbiochem.2009.08.017.Full Text Link to Item
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Gaspar, H Bobby, Alessandro Aiuti, Fulvio Porta, Fabio Candotti, Michael S. Hershfield, and Luigi D. Notarangelo. “How I treat ADA deficiency.” Blood 114, no. 17 (October 22, 2009): 3524–32. https://doi.org/10.1182/blood-2009-06-189209.Full Text Link to Item
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Hershfield, Michael S. “Reassessing serum urate targets in the management of refractory gout: can you go too low?” Curr Opin Rheumatol 21, no. 2 (March 2009): 138–42. https://doi.org/10.1097/BOR.0b013e3283257b83.Full Text Link to Item
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Liu, Ping, Ines Santisteban, Lauri M. Burroughs, Hans D. Ochs, Troy R. Torgerson, Michael S. Hershfield, David J. Rawlings, and Andrew M. Scharenberg. “Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.” Clin Immunol 130, no. 2 (February 2009): 162–74. https://doi.org/10.1016/j.clim.2008.08.026.Full Text Link to Item
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Alangari, Abdullah, Abdullah Al-Harbi, Abdulaziz Al-Ghonaium, Ines Santisteban, and Michael Hershfield. “Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.” Ann Saudi Med 29, no. 4 (2009): 309–12. https://doi.org/10.4103/0256-4947.55320.Full Text Link to Item
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Aytekin, Caner, Mutlu Yuksek, Figen Dogu, Aydin Yagmurlu, Alisan Yildiran, Suat Fitoz, Meltem Kologlu, Emel Babacan, Michael S. Hershfield, and Aydan Ikinciogullari. “An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication.” Pediatr Transplant 12, no. 4 (June 2008): 479–82. https://doi.org/10.1111/j.1399-3046.2007.00890.x.Full Text Link to Item
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Becker, Michael A., Theodore Friedmann, Kari O. Raivio, Michael S. Hershfield, and George Nuki. “In memoriam: J. Edwin Seegmiller, M.D. (1920-2006).” Nucleosides Nucleotides Nucleic Acids 27, no. 6 (June 2008): 554–56. https://doi.org/10.1080/15257770802135638.Full Text Link to Item
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Cassani, Barbara, Massimiliano Mirolo, Federica Cattaneo, Ulrike Benninghoff, Michael Hershfield, Filippo Carlucci, Antonella Tabucchi, Claudio Bordignon, Maria Grazia Roncarolo, and Alessandro Aiuti. “Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients.” Blood 111, no. 8 (April 15, 2008): 4209–19. https://doi.org/10.1182/blood-2007-05-092429.Full Text Link to Item
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Bax, Bridget E., Murray D. Bain, Lynette D. Fairbanks, A David B. Webster, Philip W. Ind, Michael S. Hershfield, and Ronald A. Chalmers. “A 9-yr evaluation of carrier erythrocyte encapsulated adenosine deaminase (ADA) therapy in a patient with adult-type ADA deficiency.” Eur J Haematol 79, no. 4 (October 2007): 338–48. https://doi.org/10.1111/j.1600-0609.2007.00927.x.Full Text Link to Item
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Sundy, John S., and Michael S. Hershfield. “Uricase and other novel agents for the management of patients with treatment-failure gout.” Curr Rheumatol Rep 9, no. 3 (June 2007): 258–64. https://doi.org/10.1007/s11926-007-0041-y.Full Text Link to Item
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Booth, Claire, Mike Hershfield, Luigi Notarangelo, Rebecca Buckley, Manfred Hoenig, Nizar Mahlaoui, Marina Cavazzana-Calvo, Alessandro Aiuti, and H Bobby Gaspar. “Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006).” Clin Immunol 123, no. 2 (May 2007): 139–47. https://doi.org/10.1016/j.clim.2006.12.009.Full Text Link to Item
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Hönig, Manfred, Michael H. Albert, Ansgar Schulz, Monika Sparber-Sauer, Catharina Schütz, Bernd Belohradsky, Tayfun Güngör, et al. “Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications.” Blood 109, no. 8 (April 15, 2007): 3595–3602. https://doi.org/10.1182/blood-2006-07-034678.Full Text Link to Item
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Sundy, John S., Nancy J. Ganson, Susan J. Kelly, Edna L. Scarlett, Claudia D. Rehrig, William Huang, and Michael S. Hershfield. “Pharmacokinetics and pharmacodynamics of intravenous PEGylated recombinant mammalian urate oxidase in patients with refractory gout.” Arthritis Rheum 56, no. 3 (March 2007): 1021–28. https://doi.org/10.1002/art.22403.Full Text Link to Item
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Engel, Barbara C., Greg M. Podsakoff, Joanna L. Ireland, E Monika Smogorzewska, Denise A. Carbonaro, Kathy Wilson, Ami Shah, et al. “Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report.” Blood 109, no. 2 (January 15, 2007): 503–6. https://doi.org/10.1182/blood-2006-06-031476.Full Text Link to Item
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Hershfield, M. “Author's reply [3].” Clinical and Vaccine Immunology 13, no. 3 (March 1, 2006): 434–35. https://doi.org/10.1128/CVI.13.3.433-435.2006.Full Text
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Ganson, Nancy J., Susan J. Kelly, Edna Scarlett, John S. Sundy, and Michael S. Hershfield. “Control of hyperuricemia in subjects with refractory gout, and induction of antibody against poly(ethylene glycol) (PEG), in a phase I trial of subcutaneous PEGylated urate oxidase.” Arthritis Res Ther 8, no. 1 (2006): R12. https://doi.org/10.1186/ar1861.Full Text Link to Item
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Ganson, N. J., S. J. Kelly, E. Scarlett, J. S. Sundy, and M. S. Hershfield. “Control of hyperuricemia in subjects with refractory gout, and induction of antibody against poly(ethylene glycol) (PEG), in a phase I trial of subcutaneous PEGylated urate oxidase.” Arthritis Research and Therapy 8, no. 1 (December 2, 2005). https://doi.org/10.1186/ar1861.Full Text
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Kaufman, David A., Michael S. Hershfield, Joseph A. Bocchini, I John Moissidis, Majed Jeroudi, and Sami L. Bahna. “Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase.” Pediatrics 116, no. 6 (December 2005): e876–79. https://doi.org/10.1542/peds.2005-1068.Full Text Link to Item
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Malacarne, Fabio, Tiziana Benicchi, Lucia Dora Notarangelo, Luigi Mori, Silvia Parolini, Luigi Caimi, Michael Hershfield, Luigi Daniele Notarangelo, and Luisa Imberti. “Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients.” Eur J Immunol 35, no. 11 (November 2005): 3376–86. https://doi.org/10.1002/eji.200526248.Full Text Link to Item
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Chan, Belinda, Diane Wara, John Bastian, Michael S. Hershfield, John Bohnsack, Colleen G. Azen, Robertson Parkman, Kenneth Weinberg, and Donald B. Kohn. “Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID).” Clin Immunol 117, no. 2 (November 2005): 133–43. https://doi.org/10.1016/j.clim.2005.07.006.Full Text Link to Item
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Blanchet, Fabien, Ana Cardona, Fabrice A. Letimier, Michael S. Hershfield, and Oreste Acuto. “CD28 costimulatory signal induces protein arginine methylation in T cells.” J Exp Med 202, no. 3 (August 1, 2005): 371–77. https://doi.org/10.1084/jem.20050176.Full Text Link to Item
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Lainka, Elke, Michael S. Hershfield, Ines Santisteban, Pawan Bali, Annette Seibt, Jennifer Neubert, Wilhelm Friedrich, and Tim Niehues. “polyethylene glycol-conjugated adenosine deaminase (ADA) therapy provides temporary immune reconstitution to a child with delayed-onset ADA deficiency.” Clin Diagn Lab Immunol 12, no. 7 (July 2005): 861–66. https://doi.org/10.1128/CDLI.12.7.861-866.2005.Full Text Link to Item
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Hershfield, Michael S. “New insights into adenosine-receptor-mediated immunosuppression and the role of adenosine in causing the immunodeficiency associated with adenosine deaminase deficiency.” Eur J Immunol 35, no. 1 (January 2005): 25–30. https://doi.org/10.1002/eji.200425738.Full Text Link to Item
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Myers, Laurie A., Michael S. Hershfield, Wirt T. Neale, Maria Escolar, and Joanne Kurtzberg. “Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.” J Pediatr 145, no. 5 (November 2004): 710–12. https://doi.org/10.1016/j.jpeds.2004.06.075.Full Text Link to Item
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Gu, Yiing, Michael S. Hershfield, and Amos Cohen. “The danger within.” N Engl J Med 350, no. 26 (June 24, 2004): 2721–22. https://doi.org/10.1056/NEJM200406243502622.Full Text Link to Item
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Gonzalez-Gronow, Mario, Michael S. Hershfield, Francisco X. Arredondo-Vega, and Salvatore V. Pizzo. “Cell surface adenosine deaminase binds and stimulates plasminogen activation on 1-LN human prostate cancer cells.” J Biol Chem 279, no. 20 (May 14, 2004): 20993–98. https://doi.org/10.1074/jbc.M401023200.Full Text Link to Item
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Hershfield, Michael S. “Genotype is an important determinant of phenotype in adenosine deaminase deficiency.” Curr Opin Immunol 15, no. 5 (October 2003): 571–77. https://doi.org/10.1016/s0952-7915(03)00104-3.Full Text Link to Item
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Santisteban, Ines, Francisco X. Arredondo-Vega, Shannon Daniels, and Michael S. Hershfield. “E. coli expression system for identifying folding mutations of human adenosine deaminase.” Methods Mol Biol 232 (2003): 175–82. https://doi.org/10.1385/1-59259-394-1:175.Full Text Link to Item
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Richard, Eva, S Munir Alam, Francisco X. Arredondo-Vega, Dhavalkumar D. Patel, and Michael S. Hershfield. “Clustered charged amino acids of human adenosine deaminase comprise a functional epitope for binding the adenosine deaminase complexing protein CD26/dipeptidyl peptidase IV.” J Biol Chem 277, no. 22 (May 31, 2002): 19720–26. https://doi.org/10.1074/jbc.M111901200.Full Text Link to Item
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Otsu, Makoto, Michael S. Hershfield, Laura M. Tuschong, Linda M. Muul, Masafumi Onodera, Tadashi Ariga, Yukio Sakiyama, and Fabio Candotti. “Flow cytometry analysis of adenosine deaminase (ADA) expression: a simple and reliable tool for the assessment of ADA-deficient patients before and after gene therapy.” Hum Gene Ther 13, no. 3 (February 10, 2002): 425–32. https://doi.org/10.1089/10430340252792558.Full Text Link to Item
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Arredondo-Vega, Francisco X., Ines Santisteban, Eva Richard, Pawan Bali, Majed Koleilat, Michael Loubser, Abdulaziz Al-Ghonaium, Mariam Al-Helali, and Michael S. Hershfield. “Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.” Blood 99, no. 3 (February 1, 2002): 1005–13. https://doi.org/10.1182/blood.v99.3.1005.Full Text Link to Item
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Ariga, T., N. Oda, K. Yamaguchi, N. Kawamura, H. Kikuta, S. Taniuchi, Y. Kobayashi, et al. “T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation.” Blood 97, no. 9 (May 1, 2001): 2896–99. https://doi.org/10.1182/blood.v97.9.2896.Full Text Link to Item
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Kelly, Susan J., Marielle Delnomdedieu, Michael I. Oliverio, L David Williams, Mark G. P. Saifer, Merry R. Sherman, Thomas M. Coffman, G Allan Johnson, and Michael S. Hershfield. “Diabetes insipidus in uricase-deficient mice: a model for evaluating therapy with poly(ethylene glycol)-modified uricase.” J Am Soc Nephrol 12, no. 5 (May 2001): 1001–9. https://doi.org/10.1681/ASN.V1251001.Full Text Link to Item
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Ariga, T., N. Oda, I. Sanstisteban, F. X. Arredondo-Vega, M. Shioda, H. Ueno, K. Terada, K. Kobayashi, M. S. Hershfield, and Y. Sakiyama. “Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.” J Immunol 166, no. 3 (February 1, 2001): 1698–1702. https://doi.org/10.4049/jimmunol.166.3.1698.Full Text Link to Item
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Myers, L. A., W. T. Neale, M. S. Hershfield, and M. L. Escolar. “Purine nucleoside phosphorylase deficiency presenting with lymphopenia and hypogammaglobulinemia.” Journal of Allergy and Clinical Immunology 107, no. 2 (February 1, 2001): S204–S204.Link to Item
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Rubocki, R. J., J. R. Parsa, M. S. Hershfield, W. G. Sanger, S. J. Pirruccello, I. Santisteban, B. G. Gordon, S. E. Strandjord, P. I. Warkentin, and P. F. Coccia. “Full hematopoietic engraftment after allogeneic bone marrow transplantation without cytoreduction in a child with severe combined immunodeficiency.” Blood 97, no. 3 (February 1, 2001): 809–11. https://doi.org/10.1182/blood.v97.3.809.Full Text Link to Item
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Vihinen, M., F. X. Arredondo-Vega, J. L. Casanova, A. Etzioni, S. Giliani, L. Hammarström, M. S. Hershfield, et al. “Primary immunodeficiency mutation databases.” Adv Genet 43 (2001): 103–88. https://doi.org/10.1016/s0065-2660(01)43005-7.Full Text Link to Item
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Richard, E., F. X. Arredondo-Vega, I. Santisteban, S. J. Kelly, D. D. Patel, and M. S. Hershfield. “The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency.” J Exp Med 192, no. 9 (November 6, 2000): 1223–36. https://doi.org/10.1084/jem.192.9.1223.Full Text Link to Item
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Thompson, L. F., C. J. Van de Wiele, A. B. Laurent, S. W. Hooker, J. G. Vaughn, H. Jiang, K. Khare, et al. “Metabolites from apoptotic thymocytes inhibit thymopoiesis in adenosine deaminase-deficient fetal thymic organ cultures.” J Clin Invest 106, no. 9 (November 2000): 1149–57. https://doi.org/10.1172/JCI9944.Full Text Link to Item
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Blackburn, M. R., M. Aldrich, J. B. Volmer, W. Chen, H. Zhong, S. Kelly, M. S. Hershfield, S. K. Datta, and R. E. Kellems. “The use of enzyme therapy to regulate the metabolic and phenotypic consequences of adenosine deaminase deficiency in mice. Differential impact on pulmonary and immunologic abnormalities.” J Biol Chem 275, no. 41 (October 13, 2000): 32114–21. https://doi.org/10.1074/jbc.M005153200.Full Text Link to Item
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Arpaia, E., P. Benveniste, A. Di Cristofano, Y. Gu, I. Dalal, S. Kelly, M. Hershfield, P. P. Pandolfi, C. M. Roifman, and A. Cohen. “Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice.” J Exp Med 191, no. 12 (June 19, 2000): 2197–2208. https://doi.org/10.1084/jem.191.12.2197.Full Text Link to Item
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Arpaia, E., Y. Gu, I. Dalal, S. Kelly, M. Hershfield, C. M. Roifman, and A. Cohen. “Biochemical and immunological abnormalities in purine nucleoside phosphorylase deficient mice.” Adv Exp Med Biol 486 (2000): 41–45. https://doi.org/10.1007/0-306-46843-3_8.Full Text Link to Item
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Hershfield, M. S. “Immunodeficiency caused by adenosine deaminase deficiency.” Immunology and Allergy Clinics of North America 20, no. 1 (January 1, 2000): 161–75. https://doi.org/10.1016/S0889-8561(05)70140-5.Full Text
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Van De Wiel, C. J., S. W. Hooker, A. B. Laurent, J. G. Vaughn, M. R. Blackburn, R. E. Kellems, M. S. Hershfield, and L. F. Thompson. “Inhibition of fetal thymic caspases abrogates the consequences of adenosine deaminase deficiency.” Adv Exp Med Biol 486 (2000): 65–70. https://doi.org/10.1007/0-306-46843-3_12.Full Text Link to Item
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Dunbar, C., L. Chang, C. Mullen, W. J. Ramsey, C. Carter, D. Kohn, R. Parkman, et al. “Amendment to Clinical Research Project. Project 90-C-195. April 1, 1993. Treatment of severe combined immunodeficiency disease (SCID) due to adenosine deaminase deficiency with autologous lymphocytes transduced with a human ADA gene.” Hum Gene Ther 10, no. 3 (February 10, 1999): 477–88. https://doi.org/10.1089/10430349950018913.Full Text Link to Item
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Arredondo-Vega, F. X., I. Santisteban, S. Daniels, S. Toutain, and M. S. Hershfield. “Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.” Am J Hum Genet 63, no. 4 (October 1998): 1049–59. https://doi.org/10.1086/302054.Full Text Link to Item
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Hershfield, M. S. “Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy.” Semin Hematol 35, no. 4 (October 1998): 291–98.Link to Item
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HERSHFIELD, M. “A quantitative ranking system for relating genotype to phenotype in adenosine deaminase (ADA) deficiency, based on the expressed activity of 29 mutant alleles in E. coli.” Molecular Immunology 35, no. 11–12 (August 1998): 716–716. https://doi.org/10.1016/s0161-5890(98)90375-3.Full Text
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Kohn, D. B., M. S. Hershfield, D. Carbonaro, A. Shigeoka, J. Brooks, E. M. Smogorzewska, L. W. Barsky, et al. “T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord blood CD34+ cells in ADA-deficient SCID neonates.” Nat Med 4, no. 7 (July 1998): 775–80. https://doi.org/10.1038/nm0798-775.Full Text Link to Item
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Fleischman, A., M. S. Hershfield, S. Toutain, H. M. Lederman, K. E. Sullivan, M. B. Fasano, J. Greene, and J. A. Winkelstein. “Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency.” Clin Diagn Lab Immunol 5, no. 3 (May 1998): 399–400. https://doi.org/10.1128/CDLI.5.3.399-400.1998.Full Text Link to Item
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Turner, M. A., C. S. Yuan, R. T. Borchardt, M. S. Hershfield, G. D. Smith, and P. L. Howell. “Structure determination of selenomethionyl S-adenosylhomocysteine hydrolase using data at a single wavelength.” Nat Struct Biol 5, no. 5 (May 1998): 369–76. https://doi.org/10.1038/nsb0598-369.Full Text Link to Item
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Sicherer, S. H., M. E. Bollinger, M. S. Hershfield, H. A. Sampson, and H. M. Lederman. “Food allergy in a patient with adenosine deaminase deficiency undergoing enzyme replacement with polyethylene glycol-modified adenosine deaminase.” J Allergy Clin Immunol 101, no. 4 Pt 1 (April 1998): 561–62. https://doi.org/10.1016/s0091-6749(98)70408-7.Full Text Link to Item
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Arrendondo-Vega, F. X., I. Santisteban, L. D. Notarangelo, J. El Dahr, R. Buckley, C. Roifman, M. E. Conley, and M. S. Hershfield. “Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.” Hum Mutat 11, no. 6 (1998): 482. https://doi.org/10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E.Full Text Link to Item
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Migchielsen, A. A., S. Knaän-Schanzer, M. L. Breuer, M. S. Hershfield, and D. Valerio. “Generation of normal lymphocyte populations following transplantation of adenosine-deaminase-deficient fetal liver cells.” Bone Marrow Transplant 19, no. 11 (June 1997): 1137–43. https://doi.org/10.1038/sj.bmt.1700802.Full Text Link to Item
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Hershfield, M. S., F. X. Arredondo-Vega, and I. Santisteban. “Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency.” J Inherit Metab Dis 20, no. 2 (June 1997): 179–85. https://doi.org/10.1023/a:1005300621350.Full Text Link to Item
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Turner, M. A., K. Dole, C. S. Yuan, M. S. Hershfield, R. T. Borchardt, and P. L. Howell. “Crystallization and preliminary X-ray analysis of human placental S-adenosylhomocysteine hydrolase.” Acta Crystallogr D Biol Crystallogr 53, no. Pt 3 (May 1, 1997): 339–41. https://doi.org/10.1107/S0907444996014746.Full Text Link to Item
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Ozsahin, H., F. X. Arredondo-Vega, I. Santisteban, H. Fuhrer, P. Tuchschmid, W. Jochum, A. Aguzzi, et al. “Adenosine deaminase deficiency in adults.” Blood 89, no. 8 (April 15, 1997): 2849–55.Link to Item
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Hershfield, M. S. “Biochemistry and immunology of poly(ethylene glycol)-modified adenosine deaminase (PEG-ADA).” American Chemical Society, Polymer Preprints, Division of Polymer Chemistry 38, no. 1 (April 1, 1997): 567.
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Hershfield, M. S. “Biochemistry and Immunology of Poly(ethylene glycol)-Modified Adenosine Deaminase (PEG-ADA).” Acs Symposium Series 680 (January 1, 1997): 145–54. https://doi.org/10.1021/bk-1997-0680.ch010.Full Text
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Migchielsen, A. A., M. L. Breuer, M. S. Hershfield, and D. Valerio. “Full genetic rescue of adenosine deaminase-deficient mice through introduction of the human gene.” Hum Mol Genet 5, no. 10 (October 1996): 1523–32. https://doi.org/10.1093/hmg/5.10.1523.Full Text Link to Item
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Bollinger, M. E., F. X. Arredondo-Vega, I. Santisteban, K. Schwarz, M. S. Hershfield, and H. M. Lederman. “Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency.” N Engl J Med 334, no. 21 (May 23, 1996): 1367–71. https://doi.org/10.1056/NEJM199605233342104.Full Text Link to Item
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Broome, C. B., M. L. Graham, F. T. Saulsbury, M. S. Hershfield, and R. H. Buckley. “Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling.” J Pediatr 128, no. 3 (March 1996): 373–76. https://doi.org/10.1016/s0022-3476(96)70285-8.Full Text Link to Item
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Santisteban, I., F. X. Arredondo-Vega, S. Kelly, M. Loubser, N. Meydan, C. Roifman, P. L. Howell, T. Bowen, K. I. Weinberg, and M. L. Schroeder. “Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.” Hum Mol Genet 4, no. 11 (November 1995): 2081–87. https://doi.org/10.1093/hmg/4.11.2081.Full Text Link to Item
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Kohn, D. B., K. I. Weinberg, J. A. Nolta, L. N. Heiss, C. Lenarsky, G. M. Crooks, M. E. Hanley, G. Annett, J. S. Brooks, and A. el-Khoureiy. “Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency.” Nat Med 1, no. 10 (October 1995): 1017–23. https://doi.org/10.1038/nm1095-1017.Full Text Link to Item
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Hershfield, M. S. “PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 years.” Clin Immunol Immunopathol 76, no. 3 Pt 2 (September 1995): S228–32. https://doi.org/10.1016/s0090-1229(95)90306-2.Full Text Link to Item
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Migchielsen, A. A., M. L. Breuer, M. A. van Roon, H. te Riele, C. Zurcher, F. Ossendorp, S. Toutain, M. S. Hershfield, A. Berns, and D. Valerio. “Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death.” Nat Genet 10, no. 3 (July 1995): 279–87. https://doi.org/10.1038/ng0795-279.Full Text Link to Item
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BROOME, C. B., M. L. GRAHAM, F. T. SAULSBURY, M. S. HERSHFIELD, and R. H. BUCKLEY. “SUCCESSFUL BONE-MARROW TRANSPLANTATION (BMT) FOR PURINE NUCLEOSIDE PHOSPHORYLASE (PNP) DEFICIENCY.” Journal of Allergy and Clinical Immunology 95, no. 1 (January 1, 1995): 142–142.Link to Item
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Hershfield, M. S. “PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency.” Hum Mutat 5, no. 2 (1995): 107–12. https://doi.org/10.1002/humu.1380050202.Full Text Link to Item
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Santisteban, I., F. X. Arredondo-Vega, S. Kelly, M. Debre, A. Fischer, J. L. Pérignon, B. Hilman, J. elDahr, D. H. Dreyfus, and E. W. Gelfand. “Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.” Hum Mutat 5, no. 3 (1995): 243–50. https://doi.org/10.1002/humu.1380050309.Full Text Link to Item
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Turner, M. A., A. M. Achyuthan, M. S. Hershfield, R. R. McInnes, and P. L. Howell. “Expression, purification, crystallization and preliminary X-ray analysis of human argininosuccinic acid lyase.” J Mol Biol 239, no. 2 (June 3, 1994): 336–38. https://doi.org/10.1006/jmbi.1994.1372.Full Text Link to Item
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Arredondo-Vega, F. X., I. Santisteban, S. Kelly, C. M. Schlossman, D. T. Umetsu, and M. S. Hershfield. “Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.” Am J Hum Genet 54, no. 5 (May 1994): 820–30.Link to Item
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Walcott, D. W., T. Linehan, B. C. Hilman, M. S. Hershfield, and J. el Dahr. “Failure to thrive, diarrhea, cough, and oral candidiasis in a three-month-old boy.” Ann Allergy 72, no. 5 (May 1994): 408–14.Link to Item
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Miller, M. W., D. M. Duhl, B. M. Winkes, F. Arredondo-Vega, P. J. Saxon, G. L. Wolff, C. J. Epstein, M. S. Hershfield, and G. S. Barsh. “The mouse lethal nonagouti (a(x)) mutation deletes the S-adenosylhomocysteine hydrolase (Ahcy) gene.” Embo J 13, no. 8 (April 15, 1994): 1806–16. https://doi.org/10.1002/j.1460-2075.1994.tb06449.x.Full Text Link to Item
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Umetsu, D. T., C. M. Schlossman, H. D. Ochs, and M. S. Hershfield. “Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency.” J Allergy Clin Immunol 93, no. 2 (February 1994): 543–50. https://doi.org/10.1016/0091-6749(94)90365-4.Full Text Link to Item
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Santisteban, I., F. X. Arredondo-Vega, S. Kelly, A. Mary, A. Fischer, D. S. Hummell, A. Lawton, R. U. Sorensen, E. R. Stiehm, and L. Uribe. “Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.” J Clin Invest 92, no. 5 (November 1993): 2291–2302. https://doi.org/10.1172/JCI116833.Full Text Link to Item
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ARREDONDOVEGA, F. X., I. SANTISTEBAN, S. KELLY, C. SCHLOSSMAN, D. UMETSU, and M. S. HERSHFIELD. “COMPOUND HETEROZYGOSITY FOR SPLICING MUTATIONS IN ADENOSINE DEAMINASE-DEFICIENT SIBS WITH DISPARATE CLINICAL PHENOTYPES.” American Journal of Human Genetics 53, no. 3 (September 1, 1993): 886–886.Link to Item
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Gossage, D. L., C. J. Norby-Slycord, M. S. Hershfield, and M. L. Markert. “A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein.” Hum Mol Genet 2, no. 9 (September 1993): 1493–94. https://doi.org/10.1093/hmg/2.9.1493.Full Text Link to Item
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Weinberg, K., M. S. Hershfield, J. Bastian, D. Kohn, L. Sender, R. Parkman, and C. Lenarsky. “T lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminase.” J Clin Invest 92, no. 2 (August 1993): 596–602. https://doi.org/10.1172/JCI116626.Full Text Link to Item
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Chun, J. D., N. Lee, R. H. Kobayashi, S. Chaffee, M. S. Hershfield, and E. R. Stiehm. “Suppression of an antibody to adenosine-deaminase (ADA) in an ADA-deficient patient receiving polyethylene glycol modified adenosine deaminase.” Ann Allergy 70, no. 6 (June 1993): 462–66.Link to Item
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Hershfield, Michael S., Sara Chaffee, and Ricardo U. Sorensen. “Enzyme Replacement Therapy with Polyethylene Glycol-Adenosine Deaminase in Adenosine Deaminase Deficiency: Overview and Case Reports of Three Patients, Including Two Now Receiving Gene Therapy.” Pediatric Research 33 (April 1993): S42–48. https://doi.org/10.1203/00006450-199304001-00009.Full Text
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Blaese, R. M. “Development of gene therapy for immunodeficiency: adenosine deaminase deficiency.” Pediatr Res 33, no. 1 Suppl (January 1993): S49–53. https://doi.org/10.1203/00006450-199305001-00278.Full Text Link to Item
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Hershfield, M. S. “Enzyme replacement therapy of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase (PEG-ADA).” Immunodeficiency 4, no. 1–4 (1993): 93–97.Link to Item
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Hershfield, M. S., S. Chaffee, and R. U. Sorensen. “Enzyme replacement therapy with polyethylene glycol-adenosine deaminase in adenosine deaminase deficiency: overview and case reports of three patients, including two now receiving gene therapy.” Pediatr Res 33, no. 1 Suppl (January 1993): S42–47. https://doi.org/10.1203/00006450-199305001-00236.Full Text Link to Item
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Hershfield, M. S., S. Chaffee, and R. U. Sorensen. “Enzyme replacement therapy with polyethylene glycol-adenosine deaminase in adenosine deaminase deficiency: Overview and case reports of three patients, including two now receiving gene therapy.” Pediatric Research 33, no. 1 (January 1, 1993): S42–48. https://doi.org/10.1203/00006450-199333011-00009.Full Text
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Perlmutter, R. M. “Molecular dissection of lymphocyte signal transduction pathways.” Pediatr Res 33, no. 1 Suppl (January 1993): S9-13. https://doi.org/10.1203/00006450-199305001-00041.Full Text Link to Item
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Ochs, H. D., R. H. Buckley, R. H. Kobayashi, A. L. Kobayashi, R. U. Sorensen, S. D. Douglas, B. L. Hamilton, and M. S. Hershfield. “Antibody responses to bacteriophage phi X174 in patients with adenosine deaminase deficiency.” Blood 80, no. 5 (September 1, 1992): 1163–71.Link to Item
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Henderson, D. M., S. Hanson, T. Allen, K. Wilson, D. E. Coulter-Karis, M. L. Greenberg, M. S. Hershfield, and B. Ullman. “Cloning of the gene encoding Leishmania donovani S-adenosylhomocysteine hydrolase, a potential target for antiparasitic chemotherapy.” Mol Biochem Parasitol 53, no. 1–2 (July 1992): 169–83. https://doi.org/10.1016/0166-6851(92)90019-g.Full Text Link to Item
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Chaffee, S., A. Mary, E. R. Stiehm, D. Girault, A. Fischer, and M. S. Hershfield. “IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency.” J Clin Invest 89, no. 5 (May 1992): 1643–51. https://doi.org/10.1172/JCI115761.Full Text Link to Item
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Girault, D., F. Le Deist, M. Debré, J. L. Pérignon, C. Herbelin, C. Griscelli, D. Sciudery, M. Hershfield, and A. Fischer. “[Treatment of adenosine deaminase deficiency with adenosine deaminase combined with polyethylene glycol].” Arch Fr Pediatr 49, no. 4 (April 1992): 339–43.Link to Item
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Hebert, M. E., M. L. Greenberg, S. Chaffee, L. Gravatt, M. S. Hershfield, G. B. Elion, and J. Kurtzberg. “Pharmacologic purging of malignant T cells from human bone marrow using 9-beta-D-arabinofuranosylguanine.” Transplantation 52, no. 4 (October 1991): 634–40. https://doi.org/10.1097/00007890-199110000-00011.Full Text Link to Item
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Lahood, N. N., M. S. Hershfield, L. E. Leiva, and R. U. Sorensen. “Recurrent infection, chronic diarrhea, and failure to thrive in a seven-month-old infant.” Ann Allergy 67, no. 4 (October 1991): 389–93.Link to Item
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Hershfield, M. S., S. Chaffee, L. Koro-Johnson, A. Mary, A. A. Smith, and S. A. Short. “Use of site-directed mutagenesis to enhance the epitope-shielding effect of covalent modification of proteins with polyethylene glycol.” Proc Natl Acad Sci U S A 88, no. 16 (August 15, 1991): 7185–89. https://doi.org/10.1073/pnas.88.16.7185.Full Text Link to Item
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Bory, C., R. Boulieu, G. Souillet, C. Chantin, P. Guibaud, and M. S. Hershfield. “Effect of polyethylene glycol-modified adenosine deaminase (PEG-ADA) therapy in two ADA-deficient children: measurement of erythrocyte deoxyadenosine triphosphate as a useful tool.” Adv Exp Med Biol 309A (1991): 173–76. https://doi.org/10.1007/978-1-4899-2638-8_39.Full Text Link to Item
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Bory, C., R. Boulieu, G. Souillet, and M. S. Hershfield. “Polyethylene glycol-adenosine deaminase: A new adenosine deaminase deficiency therapy. Interest of deoxyadenosine triphosphate determination for therapeutic monitoring.” Therapie 46, no. 4 (January 1, 1991): 323–26.
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Bory, C., R. Boulieu, G. Souillet, and M. S. Hershfield. “[Polyethylene glycol-adenosine deaminase: a new adenosine deaminase deficiency therapy. Value of deoxyadenosine triphosphate determination for therapeutic monitoring].” Therapie 46, no. 4 (1991): 323–26.Link to Item
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Arredondo-Vega, F. X., J. Kurtzberg, S. Chaffee, I. Santisteban, E. Reisner, M. S. Povey, and M. S. Hershfield. “Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.” J Clin Invest 86, no. 2 (August 1990): 444–52. https://doi.org/10.1172/JCI114730.Full Text Link to Item
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Bory, C., R. Boulieu, G. Souillet, C. Chantin, M. O. Rolland, M. Mathieu, and M. Hershfield. “Comparison of red cell transfusion and polyethylene glycol-modified adenosine deaminase therapy in an adenosine deaminase-deficient child: measurement of erythrocyte deoxyadenosine triphosphate as a useful tool.” Pediatr Res 28, no. 2 (August 1990): 127–30. https://doi.org/10.1203/00006450-199008000-00010.Full Text Link to Item
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GREENBERG, M. L., H. S. ALLAUDEEN, and M. S. HERSHFIELD. “Metabolism, Toxicity, and Anti‐HIV Activity of 2′‐Deoxy‐3′‐Thia‐Cytidine (BCH‐189) in T and B Cell Lines.” Annals of the New York Academy of Sciences 616, no. 1 (January 1, 1990): 517–18. https://doi.org/10.1111/j.1749-6632.1990.tb17880.x.Full Text
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Hershfield, M., and Z. Finkelberg. “ADA deficiency treatment.” Science 246, no. 4936 (December 15, 1989): 1375.Link to Item
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Finger, L. R., J. Kagan, G. Christopher, J. Kurtzberg, M. S. Hershfield, P. C. Nowell, and C. M. Croce. “Involvement of the TCL5 gene on human chromosome 1 in T-cell leukemia and melanoma.” Proc Natl Acad Sci U S A 86, no. 13 (July 1989): 5039–43. https://doi.org/10.1073/pnas.86.13.5039.Full Text Link to Item
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Coulter-Karis, D. E., and M. S. Hershfield. “Sequence of full length cDNA for human S-adenosylhomocysteine hydrolase.” Ann Hum Genet 53, no. 2 (May 1989): 169–75. https://doi.org/10.1111/j.1469-1809.1989.tb01781.x.Full Text Link to Item
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Begley, C. G., P. D. Aplan, M. P. Davey, K. Nakahara, K. Tchorz, J. Kurtzberg, M. S. Hershfield, B. F. Haynes, D. I. Cohen, and T. A. Waldmann. “Chromosomal translocation in a human leukemic stem-cell line disrupts the T-cell antigen receptor delta-chain diversity region and results in a previously unreported fusion transcript.” Proc Natl Acad Sci U S A 86, no. 6 (March 1989): 2031–35. https://doi.org/10.1073/pnas.86.6.2031.Full Text Link to Item
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Kurtzberg, J., T. A. Waldmann, M. P. Davey, S. H. Bigner, J. O. Moore, M. S. Hershfield, and B. F. Haynes. “CD7+, CD4-, CD8- acute leukemia: a syndrome of malignant pluripotent lymphohematopoietic cells.” Blood 73, no. 2 (February 1989): 381–90.Link to Item
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Greenberg, M. L., and M. S. Hershfield. “A radiochemical-high-performance liquid chromatographic assay for urate oxidase in human plasma.” Anal Biochem 176, no. 2 (February 1, 1989): 290–93. https://doi.org/10.1016/0003-2697(89)90311-4.Full Text Link to Item
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Greenberg, M. L., S. Chaffee, and M. S. Hershfield. “Basis for resistance to 3-deazaaristeromycin, an inhibitor of S-adenosylhomocysteine hydrolase, in human B-lymphoblasts.” J Biol Chem 264, no. 2 (January 15, 1989): 795–803.Link to Item
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BARRETT, M. J., M. S. HERSHFIELD, and M. L. MARKERT. “CHARACTERIZATION OF THE MOLECULAR DEFECT IN PATIENTS WITH PURINE NUCLEOSIDE PHOSPHORYLASE (PNP) DEFICIENCY.” Journal of Allergy and Clinical Immunology 83, no. 1 (January 1, 1989): 286–286.Link to Item
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Coulter-Karis, D. E., and M. S. Hershfield. “Sequence of full length cDNA for human S-adenosylhomocysteine hydrolase.” Annals of Human Genetics 53, no. 2 (1989): 169–75.
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Riggs, R. M., R. N. Comber, J. A. Montgomery, and J. A. Secrist. “Phosphate modified analogues of 5'O-phosphorylated 2', 3'-dldeoxynucleosides: Synthesis and Anti-HIV activity.” Nucleosides and Nucleotides 8, no. 5–6 (January 1, 1989): 1119–20. https://doi.org/10.1080/07328318908054303.Full Text
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Dang-Vu, A. P., E. A. Olsen, R. T. Vollmer, M. L. Greenberg, and M. S. Hershfield. “Treatment of cutaneous T cell lymphoma with 2'-deoxycoformycin (pentostatin).” J Am Acad Dermatol 19, no. 4 (October 1988): 692–98. https://doi.org/10.1016/s0190-9622(88)70224-8.Full Text Link to Item
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Chaffee, S., J. M. Leeds, T. J. Matthews, K. J. Weinhold, M. Skinner, D. P. Bolognesi, and M. S. Hershfield. “Phenotypic variation in the response to the human immunodeficiency virus among derivatives of the CEM T and WIL-2 B cell lines.” J Exp Med 168, no. 2 (August 1, 1988): 605–21. https://doi.org/10.1084/jem.168.2.605.Full Text Link to Item
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Levy, Y., M. S. Hershfield, C. Fernandez-Mejia, S. H. Polmar, D. Scudiery, M. Berger, and R. U. Sorensen. “Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase.” J Pediatr 113, no. 2 (August 1988): 312–17. https://doi.org/10.1016/s0022-3476(88)80271-3.Full Text Link to Item
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Chua, C. C., M. L. Greenberg, A. T. Viau, M. Nucci, W. D. Brenckman, and M. S. Hershfield. “Use of polyethylene glycol-modified uricase (PEG-uricase) to treat hyperuricemia in a patient with non-Hodgkin lymphoma.” Ann Intern Med 109, no. 2 (July 15, 1988): 114–17. https://doi.org/10.7326/0003-4819-109-2-114.Full Text Link to Item
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Langlois, A. J., T. J. Matthews, K. J. Weinhold, S. Chaffee, M. Hershfield, and D. P. Bolognesi. “Detection of HIV-1 neutralizing antibodies by a simple, rapid, colorimetric assay.” Aids Res Hum Retroviruses 4, no. 1 (February 1988): 63–69. https://doi.org/10.1089/aid.1988.4.63.Full Text Link to Item
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Markert, M. L., M. S. Hershfield, R. I. Schiff, and R. H. Buckley. “Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients.” J Clin Immunol 7, no. 5 (September 1987): 389–99. https://doi.org/10.1007/BF00917017.Full Text Link to Item
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Markert, M. L., M. S. Hershfield, D. A. Wiginton, J. C. States, F. E. Ward, S. H. Bigner, R. H. Buckley, R. E. Kaufman, and J. J. Hutton. “Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency.” J Immunol 138, no. 10 (May 15, 1987): 3203–6.Link to Item
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Hershfield, M. S., R. H. Buckley, M. L. Greenberg, A. L. Melton, R. Schiff, C. Hatem, J. Kurtzberg, M. L. Markert, R. H. Kobayashi, and A. L. Kobayashi. “Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase.” N Engl J Med 316, no. 10 (March 5, 1987): 589–96. https://doi.org/10.1056/NEJM198703053161005.Full Text Link to Item
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Davey, M. P., K. F. Bongiovanni, W. Kaulfersch, T. Quertermous, J. G. Seidman, M. S. Hershfield, J. Kurtzberg, B. F. Haynes, M. M. Davis, and T. A. Waldmann. “Immunoglobulin and T-cell receptor gene rearrangement and expression in human lymphoid leukemia cells at different stages of maturation.” Proc Natl Acad Sci U S A 83, no. 22 (November 1986): 8759–63. https://doi.org/10.1073/pnas.83.22.8759.Full Text Link to Item
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DADDONA, P. E., W. P. WIESMANN, W. MILHOUSE, J. W. CHERN, L. B. TOWNSEND, M. S. HERSHFIELD, and H. K. WEBSTER. “EXPRESSION OF HUMAN MALARIA PARASITE PURINE NUCLEOSIDE PHOSPHORYLASE IN HOST ENZYME-DEFICIENT ERYTHROCYTE CULTURE - ENZYME CHARACTERIZATION AND IDENTIFICATION OF NOVEL INHIBITORS.” Journal of Biological Chemistry 261, no. 25 (September 5, 1986): 1667–73.Link to Item
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Daddona, P. E., W. P. Wiesmann, W. Milhouse, J. W. Chern, L. B. Townsend, M. S. Hershfield, and H. K. Webster. “Expression of human malaria parasite purine nucleoside phosphorylase in host enzyme-deficient erythrocyte culture. Enzyme characterization and identification of novel inhibitors.” J Biol Chem 261, no. 25 (September 5, 1986): 11667–73.Link to Item
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Buckley, R. H., S. E. Schiff, H. A. Sampson, R. I. Schiff, M. L. Markert, A. P. Knutsen, M. S. Hershfield, A. T. Huang, G. H. Mickey, and F. E. Ward. “Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation.” J Immunol 136, no. 7 (April 1, 1986): 2398–2407.Link to Item
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Aiyar, V. N., and M. S. Hershfield. “Covalent labelling of ligand binding sites of human placental S-adenosylhomocysteine hydrolase with 8-azido derivatives of adenosine and cyclic AMP.” Biochem J 232, no. 3 (December 15, 1985): 643–50. https://doi.org/10.1042/bj2320643.Full Text Link to Item
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Kurtzberg, J., S. H. Bigner, and M. S. Hershfield. “Establishment of the DU.528 human lymphohemopoietic stem cell line.” J Exp Med 162, no. 5 (November 1, 1985): 1561–78. https://doi.org/10.1084/jem.162.5.1561.Full Text Link to Item
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Hershfield, M. S., V. N. Aiyar, R. Premakumar, and W. C. Small. “S-Adenosylhomocysteine hydrolase from human placenta. Affinity purification and characterization.” Biochem J 230, no. 1 (August 15, 1985): 43–52. https://doi.org/10.1042/bj2300043.Full Text Link to Item
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Kurtzberg, J., and M. S. Hershfield. “Determinants of deoxyadenosine toxicity in hybrids between human T- and B- lymphoblasts as a model for the development of drug resistance in T-cell acute lymphoblastic leukemia.” Cancer Res 45, no. 4 (April 1985): 1579–86.Link to Item
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Hershfield, M. S., J. Kurtzberg, S. Chaffee, and M. L. Greenberg. “Altered regulation of S-adenosylmethionine dependent methylation in adenosine deaminase deficiency.” Prog Clin Biol Res 198 (1985): 305–12.Link to Item
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Hershfield, M. S., J. Kurtzberg, V. N. Aiyar, E. J. Suh, and R. Schiff. “Abnormalities in S-adenosylhomocysteine hydrolysis, ATP catabolism, and lymphoid differentiation in adenosine deaminase deficiency.” Ann N Y Acad Sci 451 (1985): 78–86. https://doi.org/10.1111/j.1749-6632.1985.tb27098.x.Full Text Link to Item
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Mitchell, B. S., Y. Sidi, M. Hershfield, and C. A. Koller. “Biochemical consequences of adenosine deaminase inhibition in vivo. Differential effects in acute and chronic T cell leukemia.” Ann N Y Acad Sci 451 (1985): 129–37. https://doi.org/10.1111/j.1749-6632.1985.tb27103.x.Full Text Link to Item
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Hershfield, M. S. “Effects of treatment with 2'-deoxycoformycin and vidarabine on S-adenosylhomocysteine metabolism.” Cancer Treatment Symposia VOL. 2 (January 1, 1984): 29–32.
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Hershfield, M. S., J. Kurtzberg, E. Harden, J. O. Moore, J. Whang-Peng, and B. F. Haynes. “Conversion of a stem cell leukemia from a T-lymphoid to a myeloid phenotype induced by the adenosine deaminase inhibitor 2'-deoxycoformycin.” Proc Natl Acad Sci U S A 81, no. 1 (January 1984): 253–57. https://doi.org/10.1073/pnas.81.1.253.Full Text Link to Item
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Mohandas, T., R. S. Sparkes, E. J. Suh, and M. S. Hershfield. “Regional localization of the human genes for S-adenosylhomocysteine hydrolase (cen----q131) and adenosine deaminase (q131----qter) on chromosome 20.” Hum Genet 66, no. 4 (1984): 292–95. https://doi.org/10.1007/BF00287630.Full Text Link to Item
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Hershfield, M. S., N. M. Kredich, C. A. Koller, B. S. Mitchell, J. Kurtzberg, T. R. Kinney, and J. M. Falletta. “S-adenosylhomocysteine catabolism and basis for acquired resistance during treatment of T-cell acute lymphoblastic leukemia with 2'-deoxycoformycin alone and in combination with 9-beta-D-arabinofuranosyladenine.” Cancer Res 43, no. 7 (July 1983): 3451–58.Link to Item
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Hershfield, M. S., J. E. Fetter, W. C. Small, A. S. Bagnara, S. R. Williams, B. Ullman, D. W. Martin, D. B. Wasson, and D. A. Carson. “Effects of mutational loss of adenosine kinase and deoxycytidine kinase on deoxyATP accumulation and deoxyadenosine toxicity in cultured CEM human T-lymphoblastoid cells.” J Biol Chem 257, no. 11 (June 10, 1982): 6380–86.Link to Item
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Hershfield, M. S., and U. Francke. “The human genes for S-adenosylhomocysteine hydrolase and adenosine deaminase are syntenic on chromosome 20.” Science 216, no. 4547 (May 14, 1982): 739–42. https://doi.org/10.1126/science.7079734.Full Text Link to Item
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Bagnara, A. S., and M. S. Hershfield. “Mechanism of deoxyadenosine-induced catabolism of adenine ribonucleotides in adenosine deaminase-inhibited human T lymphoblastoid cells.” Proc Natl Acad Sci U S A 79, no. 8 (April 1982): 2673–77. https://doi.org/10.1073/pnas.79.8.2673.Full Text Link to Item
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Hershfield, M. S., and A. S. Bagnara. “Mechanism of T-lymphoblast ATP depletion during treatment with deoxycoformycin.” Journal of Clinical Chemistry and Clinical Biochemistry 20, no. 6 (January 1, 1982): 375.
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Hershfield, M. S. “Proposed explanation for S-adenosylhomocysteine hydrolase deficiency in purine nucleoside phosphorylase and hypoxanthine-guanine phosphoribosyltransferase-deficient patients.” J Clin Invest 67, no. 3 (March 1981): 696–701. https://doi.org/10.1172/JCI110085.Full Text Link to Item
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Ullman, B., B. B. Levinson, M. S. Hershfield, and D. W. Martin. “A biochemical genetic study of the role of specific nucleoside kinases in deoxyadenosine phosphorylation by cultured human cells.” J Biol Chem 256, no. 2 (January 25, 1981): 848–52.Link to Item
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Hershfield, M., N. Kredich, and J. Falletta. “Effects of deoxyadenosine (dAdo) and adenine arabinoside (AraA) during deoxycoformycin (dCF) therapy.” Proceedings of the American Association for Cancer Research Vol. 22 (January 1, 1981): 621.
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Snyder, F. F., R. J. Trafzer, M. S. Hershfield, and J. E. Seegmiller. “Elucidation of aberrant purine metabolism: application to hypoxanthine-guanine phosphoribosylstransferase- and adenosine kinase-deficient mutants, and IMP dehydrogenase- and adenosine deaminase-inhibited human lymphoblasts.” Biochim Biophys Acta 609, no. 3 (October 17, 1980): 492–501. https://doi.org/10.1016/0005-2787(80)90123-9.Full Text Link to Item
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Hershfield, M. S., and N. M. Kredich. “Resistance of an adenosine kinase-deficient human lymphoblastoid cell line to effects of deoxyadenosine on growth, S-adenosylhomocysteine hydrolase inactivation, and dATP accumulation.” Proc Natl Acad Sci U S A 77, no. 7 (July 1980): 4292–96. https://doi.org/10.1073/pnas.77.7.4292.Full Text Link to Item
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Hershfield, M. S., and N. M. Kredich. “S-Adenosylhomocysteine metabolism in adenosine deaminase deficient cells.” Adv Exp Med Biol 122A (1980): 421–25. https://doi.org/10.1007/978-1-4615-9140-5_68.Full Text Link to Item
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Kredich, N. M., and M. S. Hershfield. “Perturbations in S-adenosylhomocysteine and S-adenosylmethionine metabolism: effects on transmethylation.” Adv Enzyme Regul 18 (1980): 181–91. https://doi.org/10.1016/0065-2571(80)90015-1.Full Text Link to Item
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Kredich, N. M., and M. S. Hershfield. “S-adenosylhomocysteine toxicity in normal and adenosine kinase-deficient lymphoblasts of human origin.” Proc Natl Acad Sci U S A 76, no. 5 (May 1979): 2450–54. https://doi.org/10.1073/pnas.76.5.2450.Full Text Link to Item
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Hershfield, M. S., N. M. Kredich, D. R. Ownby, H. Ownby, and R. Buckley. “In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine in adenosine deaminase-deficient patients.” J Clin Invest 63, no. 4 (April 1979): 807–11. https://doi.org/10.1172/JCI109367.Full Text Link to Item
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Hershfield, M. S. “Apparent suicide inactivation of human lymphoblast S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine and adenine arabinoside. A basis for direct toxic effects of analogs of adenosine.” J Biol Chem 254, no. 1 (January 10, 1979): 22–25.Link to Item
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Hershfield, M. S., and N. M. Krodich. “S-adenosylhomocysteine hydrolase is an adenosine-binding protein: a target for adenosine toxicity.” Science 202, no. 4369 (November 17, 1978): 757–60. https://doi.org/10.1126/science.715439.Full Text Link to Item
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Snyder, F. F., M. S. Hershfield, and J. E. Seegmiller. “Cytotoxic and metabolic effects of adenosine and adenine on human lymphoblasts.” Cancer Res 38, no. 8 (August 1978): 2357–62.Link to Item
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Spector, E. B., M. S. Hershfield, and J. E. Seegmiller. “Purine reutilization and synthesis de novo in long-term human lymphocyte cell lines deficient in adenine phosphoribosyltransferase activity.” Somatic Cell Genet 4, no. 3 (May 1978): 253–64. https://doi.org/10.1007/BF01542842.Full Text Link to Item
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Spector, E. B., M. S. Hershfield, and J. E. Seegmiller. “Purine reutilization and synthesis de novo in APRT deficient long-term lymphocyte lines.” Monogr Hum Genet 10 (1978): 108–11. https://doi.org/10.1159/000401577.Full Text Link to Item
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Hershfield, M. S., F. F. Snyder, and J. E. Seegmiller. “Adenine and adenosine are toxic to human lymphoblast mutants defective in purine salvage enzymes.” Science 197, no. 4310 (September 23, 1977): 1284–87. https://doi.org/10.1126/science.197600.Full Text Link to Item
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Hershfield, M. S., and J. E. Seegmiller. “Regulation of de novo purine synthesis in human lymphoblasts. Similar rates of de novo synthesis during growth by normal cells and mutants deficient in hypoxanthine-guanine phosphoribosyltransferase activity.” J Biol Chem 252, no. 17 (September 10, 1977): 6002–10.Link to Item
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Hershfield, M. S., and J. E. Seegmiller. “Coordinate regulation of the proximal and distal steps of the pathway of purine synthesis de nono in WI-L2 human lymphoblasts.” Adv Exp Med Biol 76A (1977): 19–29. https://doi.org/10.1007/978-1-4613-4223-6_3.Full Text Link to Item
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Snyder, F. F., M. S. Hershfield, and J. E. Seegmiller. “Purine toxicity in human lymphoblasts.” Adv Exp Med Biol 76A (1977): 30–39. https://doi.org/10.1007/978-1-4613-4223-6_4.Full Text Link to Item
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Hershfield, M. S., and J. E. Seegmiller. “Regulation of de novo purine biosynthesis in human lymphoblasts. Coordinate control of proximal (rate-determining) steps and the inosinic acid branch point.” J Biol Chem 251, no. 23 (December 10, 1976): 7348–54.Link to Item
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Hershfield, M., F. Snyder, and J. E. Seegmiller. “Purine toxicity in human lymphoblasts.” Journal of Clinical Chemistry and Clinical Biochemistry 14, no. 6 (January 1, 1976): 296–97.
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Hershfield, M. S., and J. E. Seegmiller. “Gout and the regulation of purine biosynthesis.” Horiz Biochem Biophys 2 (1976): 134–62.Link to Item
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Hershfield, M. S., and N. G. Nossal. “In vitro characterization of a mutator T4 DNA polymerase.” Genetics 73, no. Sup. (December 1, 1973): 131–36.
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Hershfield, M. S., and N. G. Nossal. “In vitro characterization of a mutator T4 DNA polymerase.” Genetics 73 (April 1973): Suppl73:131-6.Link to Item
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Hershfield, M. S. “On the role of deoxyribonucleic acid polymerase in determining mutation rates. Characterization of the defect in the T4 deoxyribonucleic acid polymerase caused by the ts L88 mutation.” J Biol Chem 248, no. 4 (February 25, 1973): 1417–23.Link to Item
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Hershfield, M. S., and N. G. Nossal. “Hydrolysis of template and newly synthesized deoxyribonucleic acid by the 3' to 5' exonuclease activity of the T4 deoxyribonucleic acid polymerase.” J Biol Chem 247, no. 11 (June 10, 1972): 3393–3404.Link to Item
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Nossal, N. G., and M. S. Hershfield. “Nuclease activity in a fragment of bacteriophage T4 deoxyribonucleic acid polymerase induced by the amber mutant am B22.” J Biol Chem 246, no. 17 (September 10, 1971): 5414–26.Link to Item
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Hershfield, M. S., and A. M. Nemeth. “Placental transport of free palmitic and linoleic acids in the guinea pig.” J Lipid Res 9, no. 4 (July 1968): 460–68.Link to Item
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Book Sections
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Hershfield, M. S., H. J. Meuwissen, and R. Hirschhorn. “ADA Deficiency - The First Described Genetic Defect Causing PID.” In Primary Immunodeficiency Disorders: A Historic and Scientific Perspective, 255–66, 2014. https://doi.org/10.1016/B978-0-12-407179-7.00020-5.Full Text
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Hershfield, Michael S., Hilaire J. Meuwissen, and Rochelle Hirschhorn. “ADA Deficiency - The First Described Genetic Defect Causing PID.” In PRIMARY IMMUNODEFICIENCY DISORDERS: A HISTORIC AND SCIENTIFIC PERSPECTIVE, 256–67, 2014.Link to Item
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Hershfield, Michael S. “Gout.” In HANDBOOK OF CLINICAL GENDER MEDICINE, 380–85, 2012.Link to Item
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Hershfield, Michael S., John S. Sundy, Nancy J. Ganson, and Susan J. Kelly. “Development of PEGylated mammalian urate oxidase as a therapy for patients with refractory gout.” In PEGylated Protein Drugs: Basic Science and Clinical Applications, 217–27. Birkhäuser Basel, 2009. https://doi.org/10.1007/978-3-7643-8679-5_13.Full Text
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Conference Papers
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Reinhardt, Bryanna, Omar Habib, Kit L. Shaw, Elizabeth Garabedian, Denise A. Carbonaro-Sarracino, Dayna Terrazas, Beatriz Campo Fernandez, et al. “Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency.” In Blood, 138:1304–16, 2021. https://doi.org/10.1182/blood.2020010260.Full Text Link to Item
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Shaw, Kit L., Elizabeth Garabedian, Rob Sokolic, Provaboti Barman, Alejandra Davila, Christopher Silvin, Satiro de Oliveira, et al. “30. Phase II Clinical Trial of Gene Therapy for Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA-SCID) Using a γ-Retroviral Vector.” In Molecular Therapy, 23:S13–14. Elsevier BV, 2015. https://doi.org/10.1016/s1525-0016(16)33634-6.Full Text
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Van Eyck, L., M. S. Hershfield, D. Pombal, S. J. Kelly, N. J. Ganson, L. Moens, G. Frans, et al. “HSCT Rescues the Immunological and Vascular Phenotype of ADA2-Deficiency.” In Journal of Clinical Immunology, 34:S196–97. SPRINGER/PLENUM PUBLISHERS, 2014.Link to Item
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Celmeli, Fatih, Giancarlo la Marca, Ines Santisteban, and Michael S. Hershfield. “LATE-ONSET PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY WITH SPASTIC PARAPLEGIA.” In Journal of Clinical Immunology, 34:717–18. SPRINGER/PLENUM PUBLISHERS, 2014.Link to Item
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Celmeli, Fatih, Giancarlo la Marca, Ines Santisteban, and Michael S. Hershfield. “LATE-ONSET PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY WITH SPASTIC PARAPLEGIA.” In Journal of Clinical Immunology, 34:717–18. SPRINGER/PLENUM PUBLISHERS, 2014.Link to Item
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Shaw, Kit L., Robert Sokolic, Alejandra Davila, Christopher Silvin, Elizabeth Garabedian, Satiro de Oliveira, Provaboti Barman, et al. “Phase II Clinical Trial of Gene Therapy for Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA-SCID).” In Molecular Therapy, 22:S107–S107. NATURE PUBLISHING GROUP, 2014.Link to Item
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Komarow, Hirsh, Robert Sokolic, Michael Young, Elizabeth Garabedian, Kenneth N. Olivier, Michael S. Hershfield, Dean D. Metcalfe, and Fabio Candotti. “Impulse Oscillometry (IOS) Reveals Increased Pulmonary Impedence in Children with Adenosine Deaminase-Deficient Severe Combined Immunodeficiency (ADA-SCID).” In Journal of Clinical Immunology, 34:359–359. SPRINGER/PLENUM PUBLISHERS, 2014.Link to Item
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Tartibi, H. M., M. S. Hershfield, and S. L. Bahna. “A 22-YEAR REPLACEMENT THERAPY FOR AN ADENOSINE DEAMINASE (ADA) DEFICIENT PATIENT.” In Annals of Allergy Asthma & Immunology, 111:A97–98. ELSEVIER SCIENCE INC, 2013.Link to Item
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Hershfield, M. S., N. J. Ganson, S. J. Kelly, E. L. Scarlett, D. A. Jaggers, and J. S. Sundy. “FRI0372 Pharmacokinetics and immunogenicity of pegloticase (PL) infused every 3 weeks to treat refractory gout (RG), including in organ transplant recipients (TR).” In Annals of the Rheumatic Diseases, 71:440.1-440. BMJ, 2013. https://doi.org/10.1136/annrheumdis-2012-eular.2829.Full Text
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Sundy, J. S., N. Gansen, S. Kelly, E. Scarlett, D. Jaggers, and M. S. Hershfield. “FRI0390 DUKE-3: A 15-week open-label trial of pegloticase in refractory gout including patients with solid organ transplant or prior pegloticase treatment.” In Annals of the Rheumatic Diseases, 71:446.2-446. BMJ, 2013. https://doi.org/10.1136/annrheumdis-2012-eular.2847.Full Text
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Genel, Ferah, Erhan Ozbek, Sukran Keskin Gozmen, Nesrin Gulez, Onur Tasci, and Michael S. Hershfield. “SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY: EVIDENCE FROM THREE CASE REPORTS.” In Journal of Clinical Immunology, 33:703–703. SPRINGER/PLENUM PUBLISHERS, 2013.Link to Item
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Candotti, F., K. L. Shaw, R. Sokolic, D. Carbonaro, L. Muul, S. Mishra, E. Garabedian, et al. “US RESULTS OF GENE THERAPY FOR ADENOSINE DEAMINASE DEFICIENCY.” In Journal of Clinical Immunology, 32:130–130. SPRINGER/PLENUM PUBLISHERS, 2012.Link to Item
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Sokolic, Robert, Linda Muul, Elizabeth Garabedian, Kit Shaw, Michael S. Hershfield, Alan S. Wayne, Donald B. Kohn, and Fabio Candotti. “Systemic Effects of PEG-ADA Withdrawal with or Without Chemotherapy (CHTX) and Cytotherapy (CTX) in Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA-SCID).” In Journal of Clinical Immunology, 32:404–404. SPRINGER/PLENUM PUBLISHERS, 2012.Link to Item
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Tillmann, H., N. J. Ganson, K. Patel, A. J. Thompson, M. Abdelmalek, T. Moody, J. G. McHutchison, and M. S. Hershfield. “307 HIGH PREVALENCE OF PRE-EXISTING ANTIBODIES AGAINST POLYETHYLENE GLYCOL (PEG) IN HEPATITIS C (HCV) PATIENTS WHICH IS NOT ASSOCIATED WITH IMPAIRED RESPONSE TO PEG-INTERFERON.” In Journal of Hepatology, 52:S129–S129. Elsevier BV, 2010. https://doi.org/10.1016/s0168-8278(10)60309-1.Full Text
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Shaw, Kit L., Robert Sokolic, Christopher Choi, Linda Muul, Monika Smogorzewska, Jayashree Jagadeesh, Elizabeth Garabedian, et al. “Immune Reconstitution after Gene Therapy for Adenosine Deaminase Deficient Severe Combined Immune Deficiency (ADA-SCID).” In Molecular Therapy, 17:S138–S138. NATURE PUBLISHING GROUP, 2009.Link to Item
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Fels, Edward, Michael S. Hershfield, Edna L. Scarlett, Denise A. Jaggers, and John S. Sundy. “The Pattern of Joint Involvement in Patients with Treatment Failure Gout.” In Arthritis and Rheumatism, 58:4027–4027. WILEY-LISS, 2008.Link to Item
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Otsu, Makoto, Satoru Nakajima, Miyuki Kida, Yoshihiro Maeyama, Nariaki Toita, Norikazu Hatano, Nobuaki Kawamura, et al. “Steady ongoing hematological and immunological reconstitution achieved in ADA-deficiency patients treated by stem cell gene therapy with no myelopreparative conditioning.” In Journal of Gene Medicine, 8:1442–1442. JOHN WILEY & SONS LTD, 2006.Link to Item
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Hershfield, Michael S., John S. Sundy, Robert D. Stevens, Nancy J. Ganson, Susan J. Kelly, and Edna Scarlett. “Measurement of exchangeable uric acid pool size: Potential utility for evaluating the therapy of gout.” In Arthritis and Rheumatism, 54:S318–S318. WILEY-LISS, 2006.Link to Item
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Otsu, Makoto, Satoru Nakajima, Miyuki Kida, Yoshihiro Maeyama, Nariaki Toita, Norikazu Hatano, Nobuaki Kawamura, et al. “1088. Stem Cell Gene Therapy with No Pre-Conditioning for the ADA-Deficiency Patients Leads to Generalized Detoxification and Delayed, but Steady Hematological Reconstitution.” In Molecular Therapy, 13:S418–S418. Elsevier BV, 2006. https://doi.org/10.1016/j.ymthe.2006.08.1190.Full Text
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Ganson, N. J., S. J. Kelly, E. Scarlett, J. S. Sundy, and M. S. Hershfield. “Antibodies to polyethylene glycol (PEG) during Phase I investigation of PEG-(R)) for refractory gout.” In Arthritis and Rheumatism, 50:S338–S338. WILEY-LISS, 2004.Link to Item
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Geletka, R. C., M. S. Hershfield, E. L. Scarlett, and J. S. Sundy. “Severe gout is associated with impaired quality of life and functional status.” In Arthritis and Rheumatism, 50:S340–41. WILEY-LISS, 2004.Link to Item
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Sundy, J. S., N. Ganson, S. J. Kelly, E. L. Scarlett, and M. S. Hershfield. “A Phase I study of pegylated-uricase (Puricase (R)) in subjects with gout.” In Arthritis and Rheumatism, 50:S337–38. WILEY-LISS, 2004.Link to Item
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Candotti, F., G. Podsakoff, S. H. Schurman, L. M. Muul, B. C. Engel, D. A. Carbonaro, G. J. Jagadeesh, et al. “Corrective gene transfer into bone marrow CD34+cells for adenosine deaminase (ADA) deficiency: Results in four patients after one year of follow-up.” In Molecular Therapy, 7:S448–49. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2003.Link to Item
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Otsu, M., R. Ichimura, J. Yoshida, N. Hatano, I. Kobayashi, N. Kawamura, T. Ariga, et al. “Discontinuation of PEG-ADA replacement therapy in a patient with ADA-deficiency previously treated with retroviral-mediated, T cell-directed gene therapy.” In Molecular Therapy, 7:S392–93. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2003.Link to Item
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Candotti, F., G. M. Podsakoff, S. H. Schurman, L. M. Muul, B. C. Engel, D. A. Carbonaro, G. J. Jagadeesh, et al. “Clinical evaluation of retroviral vectors for corrective gene transfer of adenosine deaminase (ADA) deficiency.” In Blood, 100:116A-116A. AMER SOC HEMATOLOGY, 2002.Link to Item
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Sundy, J. S., and M. S. Hershfield. “Severe morbidity associated with refractory gout.” In Arthritis and Rheumatism, 46:S140–S140. WILEY, 2002.Link to Item
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Candotti, F., G. Podsakoff, S. H. Schurman, L. M. Muul, B. C. Engel, D. A. Carbonaro, G. J. Jagadeesh, et al. “Clinical evaluation of retroviral vectors for gene therapy of adenosine deaminase (ADA) deficiency.” In Clinical Immunology, 103:S42–S42. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2002.Link to Item
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Thompson, L. F., S. W. Hooker, A. B. Laurent, S. Daniels, M. S. Hershfield, and R. Resta. “Loss of adenosine deaminase activity inhibits beta selection in murine fetal thymic organ culture.” In Faseb Journal, Vol. 12, 1998.
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Hershfield, M. S. “Biochemistry and immunology of polyethylene glycol-modified adenosine deaminase (PEG-ADA).” In Abstracts of Papers of the American Chemical Society, 213:184-POLY. AMER CHEMICAL SOC, 1997.Link to Item
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GORDON, R. K., M. C. PANKASKIE, M. S. HERSHFIELD, S. A. BRUGH, J. R. LANE, D. S. BURKE, D. L. MAYERS, and P. K. CHIANG. “POSSIBLE MECHANISMS FOR THE ANTI-HIV ACTIVITY OF 3-DEAZA-ADENOSINE (DZA) ANALOGS.” In Faseb Journal, 9:A1279–A1279. FEDERATION AMER SOC EXP BIOL, 1995.Link to Item
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BOLLINGER, M. E., M. S. HERSHFIELD, and H. M. LEDERMAN. “PROLONGED DIRECT HYPERBILIRUBINEMIA AS A PRESENTATION OF ADENOSINE-DEAMINASE DEFICIENCY.” In Journal of Allergy and Clinical Immunology, 95:236–236. MOSBY-YEAR BOOK INC, 1995.Link to Item
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HERSHFIELD, M. S., F. X. ARREDONDOVEGA, I. SANTISTEBAN, S. KELLY, and A. MARY. “ANALYSIS OF THE RELATIONSHIP OF GENOTYPE TO PHENOTYPE IN ADENOSINE-DEAMINASE (ADA) DEFICIENT PATIENTS UNDERGOING TREATMENT WITH POLYETHYLENE GLYCOL-MODIFIED ADENOSINE-DEAMINASE (PEG-ADA).” In Clinical Research, 42:A201–A201. SLACK INC, 1994.Link to Item
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KOHN, D. B., K. I. WEINBERG, C. LENARSKY, G. M. CROOKS, M. E. HANLEY, K. LAWRENCE, G. ANNETT, et al. “GENE-THERAPY FOR NEONATES WITH ADENOSINE-DEAMINASE (ADA) DEFICIENT SCID BY RETROVIRAL-MEDIATED TRANSFER OF THE HUMAN ADA CDNA INTO UMBILICAL-CORD CD34+ CELLS.” In Pediatric Research, 35:A152–A152. WILLIAMS & WILKINS, 1994.Link to Item
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KOHN, D. B., K. I. WEINBERG, R. PARKMAN, C. LENARSKY, G. M. CROOKS, K. SHAW, M. E. HANLEY, et al. “GENE-THERAPY FOR NEONATES WITH ADA-DEFICIENT SCID BY RETROVIRAL-MEDIATED TRANSFER OF THE HUMAN ADA CDNA INTO UMBILICAL-CORD CD34+ CELLS.” In Journal of Cellular Biochemistry, 238–238. WILEY-LISS, 1994.Link to Item
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Hershfield, M. S. “New therapies for adenosine deaminase deficiency: Difficult choices, some problems with evaluation.” In Clinical Immunology Newsletter, 14:133–34, 1994. https://doi.org/10.1016/0197-1859(94)90006-X.Full Text
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KOHN, D. B., K. I. WEINBERG, R. PARKMAN, C. LENARSKY, G. M. CROOKS, K. SHAW, M. E. HANLEY, et al. “GENE-THERAPY FOR NEONATES WITH ADA-DEFICIENT SCID BY RETROVIRAL-MEDIATED TRANSFER OF THE HUMAN ADA CDNA INTO UMBILICAL-CORD CD34+ CELLS.” In Blood, 82:A315–A315. W B SAUNDERS CO, 1993.Link to Item
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WOOLDRIDGE, T. N., M. S. HERSHFIELD, W. G. SANGER, S. J. PIRRUCCELLO, B. G. GORDON, A. S. MASIH, M. J. SOE, S. E. STRANDJORD, P. I. WARKENTIN, and P. F. COCCIA. “HEMATOPOIETIC ENGRAFTMENT FOLLOWING ALLOGENEIC BONE-MARROW TRANSPLANT (BMT) WITHOUT CYTOREDUCTION IN A CHILD WITH SEVERE COMBINED IMMUNE-DEFICIENCY (SCID).” In Blood, 82:A644–A644. W B SAUNDERS CO, 1993.Link to Item
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HERSHFIELD, M. S., S. CHAFFEE, and R. U. SORENSEN. “ENZYME REPLACEMENT THERAPY WITH POLYETHYLENE GLYCOL-ADENOSINE DEAMINASE IN ADENOSINE-DEAMINASE DEFICIENCY - OVERVIEW AND CASE-REPORTS OF 3 PATIENTS, INCLUDING 2 NOW RECEIVING GENE-THERAPY.” In Pediatric Research, 33:S42–48. WILLIAMS & WILKINS, 1993.Link to Item
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Belleau, B., N. Nguyen-Ba, J. L. Kraus, M. L. Greenberg, M. S. Hershfield, M. A. Wainberg, B. C. Wilkes, P. W. Schiller, and G. Dionne. “Design, anti-hiv activity, cellular pharmacology and conformation of BCH-189 [(±)3TC], a novel nucleoside analogue,” 18:7–30, 1992. https://doi.org/10.1016/B978-0-444-88931-7.50007-4.Full Text
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OCHS, H. D., R. H. BUCKLEY, R. H. KOBAYASHI, A. L. KOBAYASHI, R. U. SORENSEN, and M. S. HERSHFIELD. “ANTIBODY-RESPONSES TO BACTERIOPHAGE PHI-X174 IN PATIENTS WITH ADENOSINE-DEAMINASE DEFICIENCY.” In Clinical Research, 39:A57–A57. SLACK INC, 1991.Link to Item
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CHAFFEE, S., M. S. HERSHFIELD, L. K. JOHNSON, and S. SHORT. “COMBINED USE OF SITE DIRECTED MUTAGENESIS AND POLYETHYLENE-GLYCOL (PEG) MODIFICATION TO DEVELOP ENZYME THERAPY FOR METABOLIC DISORDERS.” In Pediatric Research, 27:A155–A155. WILLIAMS & WILKINS, 1990.Link to Item
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CHAFFEE, S., and M. S. HERSHFIELD. “IMMUNE-RESPONSE TO POLYETHYLENE GLYCOL-MODIFIED BOVINE ADENOSINE-DEAMINASE (PEG-ADA).” In Pediatric Research, 27:A155–A155. WILLIAMS & WILKINS, 1990.Link to Item
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HERSHFIELD, M. S., S. CHAFFEE, L. KOROJOHNSON, and S. SHORT. “COMBINED USE OF SITE DIRECTED MUTAGENESIS AND POLYETHYLENE-GLYCOL (PEG) MODIFICATION TO DEVELOP ENZYME THERAPY FOR METABOLIC DISORDERS.” In Clinical Research, 38:A457–A457. SLACK INC, 1990.Link to Item
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HERSHFIELD, M. S., and S. CHAFFEE. “IMMUNE-RESPONSE TO POLYETHYLENE GLYCOL-MODIFIED BOVINE ADENOSINE-DEAMINASE (PEG-ADA).” In Clinical Research, 38:A265–A265. SLACK INC, 1990.Link to Item
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LEE, N., R. H. KOBAYASHI, S. CHAFFEE, M. S. HERSHFIELD, and E. R. STIEHM. “SUPPRESSION OF AN INHIBITORY ANTIBODY TO BOVINE ADENOSINE-DEAMINASE (ADA) AND IMPROVED CELLULAR-IMMUNITY FOLLOWING INTRAVENOUS IMMUNOGLOBULIN AND PREDNISONE IN A SCID-ADA DEFICIENT CHILD RECEIVING POLYETHYLENE-GLYCOL-ADA (PEG-ADA).” In Pediatric Research, 27:A158–A158. WILLIAMS & WILKINS, 1990.Link to Item
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SORENSEN, R. U., M. BERGER, and M. S. HERSHFIELD. “SELF LIMITED THROMBOCYTOPENIA IN A PATIENT TREATED WITH POLYETHYLENE-GLYCOL (PEG) MODIFIED ADENOSINE-DEAMINASE (ADA).” In Pediatric Research, 27:A162–A162. WILLIAMS & WILKINS, 1990.Link to Item
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GREENBERG, M. L., H. S. ALLAUDEEN, and M. S. HERSHFIELD. “METABOLISM, TOXICITY, AND ANTI-HIV ACTIVITY OF 2'-DEOXY-3'-THIA-CYTIDINE (BCH-189) IN T-CELL AND B-CELL LINES.” In Aids : Anti Hiv Agents, Therapies, and Vaccines, 616:517–18, 1990.Link to Item
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HERSHFIELD, M. S., J. KURTZBERG, E. REISNER, D. HOWELL, S. CHAFFEE, and F. X. ARREDONDOVEGA. “MOSAICISM IN PATIENTS WITH ADENOSINE-DEAMINASE (ADA) DEFICIENCY AND SEVERE COMBINED IMMUNE-DEFICIENCY DISEASE (SCID).” In Clinical Research, 37:A540–A540. SLACK INC, 1989.Link to Item
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Hershfield, Michael S., Joanne Kurtzberg, Sara Chaffee, and Emily G. Reisner. “54 ADENOSINE DEAMINASE (ADA) EXPRESSED AT HIGH LEVEL IN T LYMPHOCYTES OF A PATIENT WITH ADA DEFICIENCY AND SEVERE COMBINED IMMUNE DEFICIENCY DISEASE (SCID).” In Pediatric Research, 24:120–120. Springer Science and Business Media LLC, 1988. https://doi.org/10.1203/00006450-198807000-00078.Full Text
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HERSHFIELD, M. S., and L. KOROJOHNSON. “DEVELOPMENT OF POLYETHYLENE GLYCOL-MODIFIED PURINE NUCLEOSIDE PHOSPHORYLASE - AN APPROACH TO THE TREATMENT OF PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY.” In Clinical Research, 36:A561–A561. SLACK INC, 1988.Link to Item
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Claassen, J. L., R. H. Kobayashi, A. L. Kobayashi, M. S. Hershfield, R. I. Schiff, and R. H. Buckley. “276 Antigen-specific humoral and cellular immune responses during treatment of adenosine deaminase deficient severe combined immunodeficiency (ADA-SCID) with polyethylene glycol-modified bovine adenosine deaminase (PEG-ADA).” In Journal of Allergy and Clinical Immunology, 81:237–237. Elsevier BV, 1988. https://doi.org/10.1016/0091-6749(88)90510-6.Full Text
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Kobayashi, A. D., R. H. Kobayashi, R. I. Schiff, J. Claassen, and M. S. Hershfield. “277 The use of bovine polyethylene glycol-modified adenosine deaminase (PEG-ADA) in correcting the immunodeficiency in a child with severe combined immunodeficiency-adenosine deaminase deficiency (SCID-ADA[ − ]).” In Journal of Allergy and Clinical Immunology, 81:237–237. Elsevier BV, 1988. https://doi.org/10.1016/0091-6749(88)90511-8.Full Text
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HERSHFIELD, M. S., R. H. BUCKLEY, M. L. GREENBERG, A. L. MELTON, R. H. KOBAYASHI, A. L. KOBAYASHI, R. SCHIFF, J. KURTZBERG, M. L. MARKERT, and A. ABUCHOWSKI. “TREATMENT OF ADENOSINE-DEAMINASE DEFICIENCY WITH POLYETHYLENE-GLYCOL MODIFIED ADENOSINE-DEAMINASE (PEG-ADA).” In Clinical Research, 35:A593–A593. SLACK INC, 1987.Link to Item
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MELTON, A., M. S. HERSHFIELD, M. L. GREENBERG, C. HATEM, M. L. MARKERT, J. KURTZBERG, A. ABUCHOWSKI, and R. H. BUCKLEY. “TREATMENT OF ADENOSINE DEAMINASE-DEFICIENT SEVERE COMBINED IMMUNE-DEFICIENCY (ADA-SCID) WITH POLYETHYLENE GLYCOL-MODIFIED BOVINE ADENOSINE-DEAMINASE (PEG-ADA).” In Journal of Allergy and Clinical Immunology, 79:252–252. MOSBY-YEAR BOOK INC, 1987.Link to Item
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DAVEY, M. P., K. F. BONGIOVANNI, B. F. HAYNES, W. KAULFERSCH, T. QUERTERMOUS, J. KURTZBERG, M. S. HERSHFIELD, J. G. SEIDMAN, and T. A. WALDMANN. “A HIERARCHY OF T-CELL GENE REARRANGEMENTS IS PRESENT IN LEUKEMIAS OF THE T-CELL SERIES.” In Clinical Research, 34:A656–A656. SLACK INC, 1986.Link to Item
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DAVEY, M. P., K. F. BONGIOVANNI, B. F. HAYNES, W. KAULFERSCH, T. QUERTERMOUS, J. KURTZBERG, M. S. HERSHFIELD, J. G. SEIDMAN, and T. A. WALDMANN. “A HIERARCHY OF T-CELL GENE REARRANGEMENTS IS PRESENT IN LEUKEMIAS OF THE T-CELL SERIES.” In Pediatric Research, 20:A290–A290. WILLIAMS & WILKINS, 1986.Link to Item
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MARKERT, M. L., M. S. HERSHFIELD, S. E. SCHIFF, H. A. SAMPSON, R. I. SCHIFF, and R. H. BUCKLEY. “IMMUNODEFICIENCY WITH PURINE SALVAGE PATHWAY ENZYME DEFICIENCIES - EVALUATION OF THERAPIES.” In Journal of Allergy and Clinical Immunology, 77:190–190. MOSBY-YEAR BOOK INC, 1986.Link to Item
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Hershfield, Michael S., Joanne Kurtzberg, and Richard Schlff. “HEMOLYTIC ANEMIA AND LOW RED CELL ATP/dATP RATIO IN GENETIC ADENOSINE DEAMINASE DEFICIENCY: 86.” In Pediatric Research, 19:758–758. Springer Science and Business Media LLC, 1985. https://doi.org/10.1203/00006450-198507000-00106.Full Text
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Kurtzberg, Joanna, Greenberg Sara Chaffee, Michael S. Harshfleld, and L. Michael. “A LYMPHOHEMATOPOIETIC STEM CELL MODEL FOR ADENOSINEDEAMINASE (ADA) DEFICIENCY: 105.” In Pediatric Research, 19:761–761. Springer Science and Business Media LLC, 1985. https://doi.org/10.1203/00006450-198507000-00125.Full Text
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KURTZBERG, J., and M. S. HERSHFIELD. “THE ESTABLISHMENT OF A LYMPHOHEMOPOIETIC STEM-CELL LINE, A NEW MODEL FOR THE STUDY OF CELLULAR-DIFFERENTIATION.” In Proceedings of the American Association for Cancer Research, 25:44–44. AMER ASSOC CANCER RESEARCH, 1984.Link to Item
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KURTZBERG, J., and M. S. HERSHFIELD. “ESTABLISHMENT OF A LYMPHOHEMOPOIETIC STEM-CELL LINE, A NEW MODEL FOR STUDY OF CELLULAR-DIFFERENTIATION.” In Clinical Research, 32:A418–A418. SLACK INC, 1984.Link to Item
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FOX, R. M., E. H. TRIPP, and M. S. HERSHFIELD. “SOMATIC-CELL GENETIC-ANALYSIS OF DEOXYADENOSINE TOXICITY IN HUMAN-LYMPHOCYTES.” In Clinical and Experimental Pharmacology and Physiology, 10:466–466. BLACKWELL SCIENCE, 1983.Link to Item
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HERSHFIELD, M. S., and U. FRANCKE. “SYNTENY OF THE GENES FOR S-ADENOSYLHOMOCYSTEINE HYDROLASE AND ADENOSINE-DEAMINASE - EVOLUTIONARY IMPLICATIONS.” In Journal of Clinical Chemistry and Clinical Biochemistry, 20:375–76. WALTER DE GRUYTER GMBH, 1982.Link to Item
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KREDICH, N. M., M. S. HERSHFIELD, J. M. FALLETTA, T. R. KINNEY, B. MITCHELL, and C. KOLLER. “EFFECTS OF 2'-DEOXYCOFORMYCIN ON HOMOCYSTEINE METABOLISM IN ACUTE LYMPHOBLASTIC-LEUKEMIA.” In Clinical Research, 29:A541–A541. SLACK INC, 1981.Link to Item
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Pincus, J. K., M. S. Hershfield, and N. M. Kredich. “2'-deoxycoformycin (dCE) therapy in T cell acute lymphoblastic leukemia (T-all).” In Clinical Research, Vol. 29, 1981.
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HERSHFIELD, M. S., and N. M. KREDICH. “ROLE OF ADENOSINE KINASE IN MEDIATING OR MODIFYING THE TOXICITY OF 2'-DEOXYADENOSINE.” In Clinical Research, 28:A288–A288. SLACK INC, 1980.Link to Item
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HERSHFIELD, M. S. “ACTIVE-SITE DIRECTED INACTIVATION OF S-ADENOSYLHOMOCYSTEINE HYDROLASE - POSSIBLE BASIS FOR ANTI-VIRAL EFFECTS OF ADENINE-ARABINOSIDE.” In Clinical Research, 27:A346–A346. SLACK INC, 1979.Link to Item
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HERSHFIELD, M. S., and N. M. KREDICH. “SECONDARY DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE IN ADENOSINE-DEAMINASE DEFICIENCY.” In Clinical Research, 27:A274–A274. SLACK INC, 1979.Link to Item
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HERSHFIELD, M. S. “HUMAN CYTOPLASMIC ADENOSINE BINDING-PROTEIN - IDENTIFICATION AS S-ADENOSYLHOMOCYSTEINASE.” In Federation Proceedings, 37:1466–1466. FEDERATION AMER SOC EXP BIOL, 1978.Link to Item
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HERSHFIELD, M. S., and N. M. KREDICH. “SUICIDE INACTIVATION OF S-ADENOSYLHOMOCYSTEINE HYDROLASE BY 2'-DEOXYADENOSINE - NOVEL MECHANISM FOR IMMUNE DYSFUNCTION IN ADENOSINE-DEAMINASE DEFICIENCY.” In Clinical Research, 26:A766–A766. SLACK INC, 1978.Link to Item
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HERSHFIELD, M. S., and N. M. KREDICH. “MECHANISM FOR ADENOSINE (ADO) CYTOTOXICITY IN ADENOSINE-DEAMINASE (ADA) DEFICIENCY.” In Clinical Research, 26:A329–A329. SLACK INC, 1978.Link to Item
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Hershfield, M. S., and N. M. Kredich. “Inhibition of methylation by S-adenosylhomocysteine (SAH): a basis for adenosine toxicity and immune dysfunction in adenosine deaminase deficiency.” In Clinical Research, Vol. 26, 1978.
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KREDICH, N. M., and M. S. HERSHFIELD. “INHIBITION OF DNA AND RNA METHYLATION BY S-ADENOSYLHOMOCYSTEINE - POSSIBLE BASIS FOR IMMUNE DYSFUNCTION IN ADENOSINE-DEAMINASE DEFICIENCY.” In Federation Proceedings, 37:1465–1465. FEDERATION AMER SOC EXP BIOL, 1978.Link to Item
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HERSHFIELD, M. S., F. SNYDER, and J. E. SEEGMILLER. “TOXICITY OF ADENINE AND ADENOSINE TO HUMAN LYMPHOBLASTS DOES NOT REQUIRE THEIR CONVERSION TO NUCLEOTIDES.” In Clinical Research, 25:A360–A360. SLACK INC, 1977.Link to Item
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HERSHFIELD, M. S., and J. E. SEEGMILLER. “RELATIONSHIP BETWEEN HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE (HPRT) DEFICIENCY, PRPP CONCENTRATION, AND DENOVO PURINE SYNTHESIS.” In Clinical Research, 25:A324–A324. SLACK INC, 1977.Link to Item
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Hershfield, M. S., E. B. Spector, and J. E. Seegmiller. “Purine synthesis and excretion in mutants of the WI-L2 human lymphoblastoid line deficient in adenosine kinase (AK) and adenine phosphoribosyltransferase (APRT).” In Adv Exp Med Biol, 76A:303–13, 1977. https://doi.org/10.1007/978-1-4613-4223-6_38.Full Text Link to Item
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RICE, J. R., M. S. HERSHFIELD, J. CLAPP, and E. W. HOLMES. “ADENINE PHOSPHORIBOSYLTRANSFERASE (APRT) DEFICIENCY - CLINICAL AND LABORATORY STUDIES IN A NEW KINDRED.” In Clinical Research, 25:A20–A20. SLACK INC, 1977.Link to Item
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SPECTOR, E. B., M. S. HERSHFIELD, and J. E. SEEGMILLER. “EFFECT OF APRT DEFICIENCY ON PURINE SYNTHESIS AND REUTILIZATION IN LONG-TERM LYMPHOCYTE LINES.” In Human Heredity, 27:214–214. KARGER, 1977.Link to Item
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HERSHFIELD, M. S., and J. E. SEEGMILLER. “REGULATION OF PURINE SYNTHESIS DENOVO IN HUMAN LYMPHOBLASTS.” In Federation Proceedings, 35:1662–1662. FEDERATION AMER SOC EXP BIOL, 1976.Link to Item
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