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The Journal of Allergy and Clinical Immunology|February 7, 2013
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftmentFederica Cattaneo, Mike Recher, Stefania Masneri, et al.British Journal of Haematology|September 28, 2021
Donor source and post-transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiencyDiana X Nichols-Vinueza, Mark Parta, Nirali N Shah, et al.The Journal of Allergy and Clinical Immunology|February 1, 2017
Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutationKatja G Weinacht, Louis-Marie Charbonnier, Fayhan Alroqi, et al.Frontiers in Immunology|October 29, 2020
Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment DilemmaMaria Chitty-Lopez, Emma Westermann-Clark, Irina Dawson, et al.The Journal of Allergy and Clinical Immunology|May 18, 2018
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotypeIrit Tirosh, Yasuhiro Yamazaki, Francesco Frugoni, et al.Journal of Clinical Immunology|January 26, 2021
Infectious Complications Predict Premature CD8+ T-cell Senescence in CD40 Ligand-Deficient PatientsJunghee J Shin, Jason Catanzaro, Jennifer R Yonkof, et al.The Journal of Allergy and Clinical Immunology|August 13, 2021
Poor T-cell receptor β repertoire diversity early posttransplant for severe combined immunodeficiency predicts failure of immune reconstitutionOttavia M Delmonte, Riccardo Castagnoli, Jason Yu, et al.Blood|October 16, 2015
N-WASP is required for B-cell-mediated autoimmunity in Wiskott-Aldrich syndromeStefano Volpi, Elettra Santori, Katrina Abernethy, et al.Immunology and Cell Biology|July 26, 2021
Neutralizing type-I interferon autoantibodies are associated with delayed viral clearance and intensive care unit admission in patients with COVID-19Michael S Abers, Lindsey B Rosen, Ottavia M Delmonte, et al.EMBO Molecular Medicine|August 13, 2025
Lymphopenia drives T cell exhaustion in immunodeficient STING gain-of-function miceDamien Freytag, Stéphane Giorgiutti, Grégoire Hopsomer, et al.Pageof 47