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Publication Venue For
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Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients..
42:1748-1765.
2022
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Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients..
42:1580-1581.
2022
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Common Variable Immunodeficiency in a Carrier of the ADA2 R169Q Variant: Coincidence or Causality?.
42:959-961.
2022
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Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency..
41:1915-1935.
2021
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A Case Report of SAVI Mimicking Early-Onset ANCA Vasculitis..
41:1652-1655.
2021
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Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients..
41:1633-1647.
2021
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Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy..
41:1597-1606.
2021
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Care of Children with DiGeorge Before and After Cultured Thymus Tissue Implantation..
41:896-905.
2021
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Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)..
41:680-683.
2021
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Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers..
41:498-500.
2021
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Safety and Tolerability of Subcutaneous IgPro20 at High Infusion Parameters in Patients with Primary Immunodeficiency: Findings from the Pump-Assisted Administration Cohorts of the HILO Study..
41:458-469.
2021
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Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers..
41:38-50.
2021
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Safety and Tolerability of Manual Push Administration of Subcutaneous IgPro20 at High Infusion Rates in Patients with Primary Immunodeficiency: Findings from the Manual Push Administration Cohort of the HILO Study..
41:66-75.
2021
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Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry..
40:1124-1131.
2020
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Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT..
40:1211-1213.
2020
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A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma..
40:833-839.
2020
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Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance..
40:917-926.
2020
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Conversations with Founders of the Field of Human Inborn Errors of Immunity..
40:1-8.
2020
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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..
40:223-226.
2020
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Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency..
39:842-845.
2019
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30-Year Review of Pediatric- and Adult-Onset CVID: Clinical Correlates and Prognostic Indicators..
39:678-687.
2019
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Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT..
39:653-667.
2019
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Childhood Hodgkin Lymphoma: Think DADA2..
39:26-29.
2019
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Warts and DADA2: a Mere Coincidence?.
38:836-843.
2018
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ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome..
38:484-493.
2018
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Low Serum IgE Is a Sensitive and Specific Marker for Common Variable Immunodeficiency (CVID)..
38:225-233.
2018
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Hematopoietic Stem Cell Transplantation in ADA2 Deficiency: Early Restoration of ADA2 Enzyme Activity and Disease Relapse upon Drop of Donor Chimerism..
37:746-750.
2017
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Two Sides of the Same Coin: Pediatric-Onset and Adult-Onset Common Variable Immune Deficiency..
37:592-602.
2017
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Flebogamma(®) 5 % DIF Intravenous Immunoglobulin for Replacement Therapy in Children with Primary Immunodeficiency Diseases..
36:583-589.
2016
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Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature..
36:462-471.
2016
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Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency..
36:179-186.
2016
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Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience..
35:624-637.
2015
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Subcutaneous Immunoglobulin Replacement Therapy with Hizentra® is Safe and Effective in Children Less Than 5 Years of Age..
35:558-565.
2015
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Disseminated Mycobacterium kansasii disease in complete DiGeorge syndrome..
35:435-438.
2015
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Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome..
35:479-485.
2015
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Outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning..
35:384-398.
2015
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ICON: the early diagnosis of congenital immunodeficiencies..
34:398-424.
2014
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Psychrobacter immobilis septicemia in a boy with X-linked chronic granulomatous disease and fulminant hepatic failure..
34:39-41.
2014
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The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901..
33:1156-1164.
2013
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Bioavailability of IgG administered by the subcutaneous route..
33:984-990.
2013
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Post-transplantation B cell function in different molecular types of SCID..
33:96-110.
2013
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Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency..
32:1141-1144.
2012
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Subcutaneous immunoglobulin replacement therapy with Hizentra® is safe and effective in two infants..
32:474-476.
2012
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Second generation automated anti-CCP test better predicts the clinical diagnosis of rheumatoid arthritis..
32:131-137.
2012
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Functional invariant NKT cells in pig lungs regulate the airway hyperreactivity: a potential animal model..
31:228-239.
2011
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Innate immune detection of bacterial virulence factors via the NLRC4 inflammasome..
30:502-506.
2010
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Tolerability of a new 10% liquid immunoglobulin for intravenous use, Privigen, at different infusion rates..
30:442-448.
2010
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Hyper IgM Syndrome: a Report from the USIDNET Registry.
2016