Joseph Linton Roberts | Scholars@Duke

Joseph Linton Roberts
Professor Emeritus of Pediatrics

My overall research interests are studying T cell development and defining the molecular bases of inherited immunodeficiency diseases. We are using standard candidate gene analysis approaches as well as new high throughput genome-wide sequencing, bioinformatics and functional screening in zebrafish and murine models in our work. Using these strategies we have recently reported a new molecular etiology of severe combined immunodeficiency (SCID), CD3 zeta chain deficiency. In collaboration with Dr. Wesley Burks we are also examining changes in T cell transcription patterns following treatment for peanut allergy using genome wide oligonucleotide microarrays.

Current Appointments & Affiliations

Professor Emeritus of Pediatrics, Pediatrics, Allergy and Immunology, Pediatrics 2018

Contact Information

Box 2898 Med Ctr, Durham, NC 27710
Room 101B Msrb1, Duke University Medical Center, Durham, NC 27710
rober060@mc.duke.edu (919) 684-6534

Background
Education, Training, & Certifications
- Research Associate, Immunology, Duke University 1994 - 1996
- Fellow, Experimental Immunology Branch, Cancer Institute, National Institutes of Health 1988 - 1994
- Ph.D., Duke University 1992
- Fellow, Pediatric Allergy/Immunology, Pediatrics, Duke University 1984 - 1988
- Internship/Residency, Pediatrics, Yale University 1981 - 1984
- M.D., Emory University 1981
Medical Licensure
- 9601704. North Carolina. 2018
Duke Appointment History
- Professor of Pediatrics, Pediatrics, Allergy and Immunology, Pediatrics 2017 - 2018
- Associate Professor of Pediatrics, Pediatrics, Allergy and Immunology, Pediatrics 2010 - 2017
- Assistant Professor of Pediatrics, Pediatrics, Allergy and Immunology, Pediatrics 2006 - 2010
- Assistant Clinical Professor of Pediatrics, Pediatrics, Allergy and Immunology, Pediatrics 2005 - 2006
- Assistant Professor of Pediatrics, Pediatrics, Allergy and Immunology, Pediatrics 1997 - 2005
Research
Selected Grants
- Sublingual Immunotherapy for Peanut Allergy awarded by National Institutes of Health 2008 - 2013
- CTSA UL awarded by National Institutes of Health 2006 - 2012
- Identification of Disease-Causing Mutations in SCID Using Exome-Wide Sequencing awarded by National Institutes of Health 2009 - 2012
- Understanding the Mechanism of Mucosal Immunotherapy awarded by National Institutes of Health 2007 - 2012
- Development And Persistence Of Immunity In SCID Chimeras awarded by National Institutes of Health 1998 - 2010
- Structure-Function Analysis of JAK3 in Human SCID awarded by National Institutes of Health 1997 - 2002
- Research Training In Allergy And Clinical Immunology awarded by National Institutes of Health 1907 - 1999
- Immune Cell Cooperation In Human Haploidentical Chimeras awarded by National Institutes of Health 1990 - 1991
Publications & Artistic Works
Selected Publications
- Academic Articles
  - Petrovski, Slavé, Roberta E. Parrott, Joseph L. Roberts, Hongxiang Huang, Jialong Yang, Balachandra Gorentla, Talal Mousallem, et al. “Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature..” J Clin Immunol 36, no. 5 (July 2016): 462–71. https://doi.org/10.1007/s10875-016-0281-6.
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  - Mousallem, Talal, Thomas J. Urban, K Melodi McSweeney, Sarah E. Kleinstein, Mingfu Zhu, Mehdi Adeli, Roberta E. Parrott, et al. “Clinical application of whole-genome sequencing in patients with primary immunodeficiency..” J Allergy Clin Immunol 136, no. 2 (August 2015): 476-9.e6. https://doi.org/10.1016/j.jaci.2015.02.040.
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  - Mousallem, Talal, Jialong Yang, Thomas J. Urban, Hongxia Wang, Mehdi Adeli, Roberta E. Parrott, Joseph L. Roberts, David B. Goldstein, Rebecca H. Buckley, and Xiao-Ping Zhong. “A nonsense mutation in IKBKB causes combined immunodeficiency..” Blood 124, no. 13 (September 25, 2014): 2046–50. https://doi.org/10.1182/blood-2014-04-571265.
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  - Roberts, Joseph L., Rebecca H. Buckley, Biao Luo, Jianming Pei, Alla Lapidus, Suraj Peri, Qiong Wei, et al. “CD45-deficient severe combined immunodeficiency caused by uniparental disomy..” Proc Natl Acad Sci U S A 109, no. 26 (June 26, 2012): 10456–61. https://doi.org/10.1073/pnas.1202249109.
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  - Yu, Grace P., Kari C. Nadeau, David R. Berk, Geneviève de Saint Basile, Nathalie Lambert, Perrine Knapnougel, Joseph Roberts, et al. “Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID..” Pediatr Transplant 15, no. 7 (November 2011): 733–41. https://doi.org/10.1111/j.1399-3046.2011.01563.x.
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  - Tracy, Elisabeth T., Karen M. Haas, Tracy Gentry, Melissa Danko, Joseph L. Roberts, Joanne Kurtzberg, and Henry E. Rice. “Partial splenectomy but not total splenectomy preserves immunoglobulin M memory B cells in mice..” J Pediatr Surg 46, no. 9 (September 2011): 1706–10. https://doi.org/10.1016/j.jpedsurg.2011.04.020.
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  - Sarzotti-Kelsoe, Marcella, Chan M. Win, Roberta E. Parrott, Myriah Cooney, Barry K. Moser, Joseph L. Roberts, Gregory D. Sempowski, and Rebecca H. Buckley. “Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras..” Blood 114, no. 7 (August 13, 2009): 1445–53. https://doi.org/10.1182/blood-2009-01-199323.
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  - Del Blanco, Beatriz, Joseph L. Roberts, Noelia Zamarreño, Nadège Balmelle-Devaux, and Cristina Hernández-Munain. “Flexible stereospecific interactions and composition within nucleoprotein complexes assembled on the TCR alpha gene enhancer..” J Immunol 183, no. 3 (August 1, 2009): 1871–83. https://doi.org/10.4049/jimmunol.0803351.
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  - Jones, Stacie M., Laurent Pons, Joseph L. Roberts, Amy M. Scurlock, Tamara T. Perry, Mike Kulis, Wayne G. Shreffler, et al. “Clinical efficacy and immune regulation with peanut oral immunotherapy..” J Allergy Clin Immunol 124, no. 2 (August 2009): 292-300.97. https://doi.org/10.1016/j.jaci.2009.05.022.
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  - Palmer, Kricia, Todd D. Green, Joseph L. Roberts, Elisa Sajaroff, Myriah Cooney, Roberta Parrott, Dong-Feng Chen, Nancy L. Reinsmoen, and Rebecca H. Buckley. “Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency..” J Allergy Clin Immunol 120, no. 2 (August 2007): 423–28. https://doi.org/10.1016/j.jaci.2007.02.047.
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  - Roberts, Joseph L., Jens Peter H. Lauritsen, Myriah Cooney, Roberta E. Parrott, Elisa O. Sajaroff, Chan M. Win, Michael D. Keller, et al. “T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex..” Blood 109, no. 8 (April 15, 2007): 3198–3206. https://doi.org/10.1182/blood-2006-08-043166.
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  - Ponda, Punita, Susan J. Schuval, Blanka Kaplan, Peter Logalbo, Joseph L. Roberts, and Vincent R. Bonagura. “Interleukin 7 receptor alpha-chain-mutation severe combined immunodeficiency without lymphopenia: correction with haploidentical T-cell-depleted bone marrow transplantation..” Ann Allergy Asthma Immunol 97, no. 6 (December 2006): 755–58. https://doi.org/10.1016/S1081-1206(10)60965-9.
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  - O’Shea, John J., Matthew Husa, Denise Li, Sigrun R. Hofmann, Wendy Watford, Joseph L. Roberts, Rebecca H. Buckley, Paul Changelian, and Fabio Candotti. “Jak3 and the pathogenesis of severe combined immunodeficiency..” Mol Immunol 41, no. 6–7 (July 2004): 727–37. https://doi.org/10.1016/j.molimm.2004.04.014.
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  - Roberts, Joseph L., Andrea Lengi, Stephanie M. Brown, Min Chen, Yong-Jie Zhou, John J. O’Shea, and Rebecca H. Buckley. “Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation..” Blood 103, no. 6 (March 15, 2004): 2009–18. https://doi.org/10.1182/blood-2003-06-2104.
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  - Zhou, Y. J., M. Chen, N. A. Cusack, L. H. Kimmel, K. S. Magnuson, J. G. Boyd, W. Lin, et al. “Unexpected effects of FERM domain mutations on catalytic activity of Jak3: structural implication for Janus kinases..” Mol Cell 8, no. 5 (November 2001): 959–69. https://doi.org/10.1016/s1097-2765(01)00398-7.
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  - Buckley, R. H., S. E. Schiff, R. I. Schiff, L. Markert, L. W. Williams, J. L. Roberts, L. A. Myers, and F. E. Ward. “Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency..” N Engl J Med 340, no. 7 (February 18, 1999): 508–16. https://doi.org/10.1056/NEJM199902183400703.
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  - Jabara, H. H., R. H. Buckley, J. L. Roberts, G. Lefranc, J. Loiselet, G. Khalil, and R. S. Geha. “Role of JAK3 in CD40-mediated signaling..” Blood 92, no. 7 (October 1, 1998): 2435–40.
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  - Krangel, M. S., C. Hernandez-Munain, P. Lauzurica, M. McMurry, J. L. Roberts, and X. P. Zhong. “Developmental regulation of V(D)J recombination at the TCR alpha/delta locus..” Immunol Rev 165 (October 1998): 131–47. https://doi.org/10.1111/j.1600-065x.1998.tb01236.x.
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  - Hernandez-Munain, C., J. L. Roberts, and M. S. Krangel. “Cooperation among multiple transcription factors is required for access to minimal T-cell receptor alpha-enhancer chromatin in vivo..” Mol Cell Biol 18, no. 6 (June 1998): 3223–33. https://doi.org/10.1128/mcb.18.6.3223.
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  - Jabara, H. H., R. H. Buckley, J. L. Roberts, G. Lefranc, J. Loiselet, G. Khalil, and R. S. Geha. “Role of JAK3 in CD40 mediated signaling.” Faseb Journal 12, no. 5 (March 20, 1998).
  - Lauzurica, P., X. P. Zhong, M. S. Krangel, and J. L. Roberts. “Regulation of T cell receptor delta gene rearrangement by CBF/PEBP2..” J Exp Med 185, no. 7 (April 7, 1997): 1193–1201. https://doi.org/10.1084/jem.185.7.1193.
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  - Buckley, R. H., R. I. Schiff, S. E. Schiff, M. L. Markert, L. W. Williams, T. O. Harville, J. L. Roberts, and J. M. Puck. “Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants..” J Pediatr 130, no. 3 (March 1997): 378–87. https://doi.org/10.1016/s0022-3476(97)70199-9.
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  - Roberts, J. L., P. Lauzurica, and M. S. Krangel. “Developmental regulation of VDJ recombination by the core fragment of the T cell receptor alpha enhancer..” J Exp Med 185, no. 1 (January 6, 1997): 131–40. https://doi.org/10.1084/jem.185.1.131.
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  - Kearse, K. P., J. P. Roberts, D. L. Wiest, and A. Singer. “Developmental regulation of alpha beta T cell antigen receptor assembly in immature CD4+CD8+ thymocytes..” Bioessays 17, no. 12 (December 1995): 1049–54. https://doi.org/10.1002/bies.950171209.
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  - Russell, S. M., N. Tayebi, H. Nakajima, M. C. Riedy, J. L. Roberts, M. J. Aman, T. S. Migone, et al. “Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development..” Science 270, no. 5237 (November 3, 1995): 797–800. https://doi.org/10.1126/science.270.5237.797.
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  - Kearse, K. P., J. L. Roberts, and A. Singer. “TCR alpha-CD3 delta epsilon association is the initial step in alpha beta dimer formation in murine T cells and is limiting in immature CD4+ CD8+ thymocytes..” Immunity 2, no. 4 (April 1995): 391–99. https://doi.org/10.1016/1074-7613(95)90147-7.
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  - Roberts, J. L., S. O. Sharrow, and A. Singer. “Disruption of intrathymic CD4-Ia interactions on immature CD4+CD8+ thymocytes results in diminished TCR expression on mature CD8+ T cell progeny..” Cell Immunol 161, no. 1 (March 1995): 22–27. https://doi.org/10.1006/cimm.1995.1004.
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  - Keanse, K. P., J. L. Roberts, and A. Singer. “TCRα-CD3δε{lunate} association is the initial step in αβ dimer formation in murine T cells and is limiting in immature CD4⁺CD8⁺ thymocytes.” Immunity 2, no. 4 (1995): 391–99.
  - Kearse, K. P., J. L. Roberts, T. I. Munitz, D. L. Wiest, T. Nakayama, and A. Singer. “Developmental regulation of alpha beta T cell antigen receptor expression results from differential stability of nascent TCR alpha proteins within the endoplasmic reticulum of immature and mature T cells..” Embo J 13, no. 19 (October 3, 1994): 4504–14.
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  - Punt, J. A., J. L. Roberts, K. P. Kearse, and A. Singer. “Stoichiometry of the T cell antigen receptor (TCR) complex: each TCR/CD3 complex contains one TCR alpha, one TCR beta, and two CD3 epsilon chains..” J Exp Med 180, no. 2 (August 1, 1994): 587–93. https://doi.org/10.1084/jem.180.2.587.
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  - Abe, R., C. A. Kozak, M. Foo-Phillips, J. Roberts, and M. A. Principato. “Involvement of multiple factors in the clonal deletion of self-reactive T cells..” Cell Immunol 151, no. 2 (October 15, 1993): 425–36. https://doi.org/10.1006/cimm.1993.1251.
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  - Buckley, R. H., S. E. Schiff, R. I. Schiff, J. L. Roberts, M. L. Markert, W. Peters, L. W. Williams, and F. E. Ward. “Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency..” Semin Hematol 30, no. 4 Suppl 4 (October 1993): 92–101.
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  - Buckley, R. H., S. E. Schiff, R. I. Schiff, J. L. Roberts, M. L. Markert, W. Peters, L. W. Williams, et al. “Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency.” Seminars in Hematology 30, no. 4 SUPPL. 4 (January 1, 1993): 92–104.
  - Roberts, J. L., R. Abe, E. W. Shores, and A. Singer. “Expression of Mls determinants in mice exhibiting the severe combined immunodeficiency (scid) mutation or X-linked immunodeficiency (xid) defect..” J Immunol 149, no. 5 (September 1, 1992): 1577–82.
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  - Roberts, J. L., S. O. Sharrow, and A. Singer. “Clonal deletion and clonal anergy in the thymus induced by cellular elements with different radiation sensitivities..” J Exp Med 171, no. 3 (March 1, 1990): 935–40. https://doi.org/10.1084/jem.171.3.935.
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  - Roberts, J. L., D. J. Volkman, and R. H. Buckley. “Modified MHC restriction of donor-origin T cells in humans with severe combined immunodeficiency transplanted with haploidentical bone marrow stem cells..” J Immunol 143, no. 5 (September 1, 1989): 1575–79.
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- Conference Papers
  - Boutboul, David, Hye Sun Kuehn, Zoé Van de Wyngaert, Julie E. Niemela, Isabelle Callebaut, Jennifer Stoddard, Christelle Lenoir, et al. “Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency..” In J Clin Invest, 128:3071–87, 2018. https://doi.org/10.1172/JCI98164.
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Teaching & Mentoring
Recent Courses
- PEDS 433C: Allergy and Clinical Immunology 2018

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Education, Training, & Certifications

Medical Licensure

Duke Appointment History

Selected Grants

Selected Publications

Academic Articles

Conference Papers

Recent Courses