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The Journal of Allergy and Clinical Immunology|October 5, 2016
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantationM Teresa de la Morena, David Leonard, Troy R Torgerson, et al.The Journal of Allergy and Clinical Immunology|May 7, 2018
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjectsCharlotte Schwab, Annemarie Gabrysch, Peter Olbrich, et al.The Journal of Allergy and Clinical Immunology|April 13, 2020
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutationsTiziana Lorenzini, Manfred Fliegauf, Nils Klammer, et al.Nature Medicine|August 25, 2015
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseasesYun R Li, Jin Li, Sihai D Zhao, et al.JAMA|August 21, 2014
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United StatesAntonia Kwan, Roshini S Abraham, Robert Currier, et al.The Journal of Experimental Medicine|July 9, 2026
Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosisDiana Olguín Calderón, Laura E Kilpatrick, Clément Conil, et al.Biorxiv : the Preprint Server for Biology|April 3, 2026
Homozygosity for rare or common hypomorphic IL23R variants confers a predisposition to tuberculosis in humansDiana Olguín Calderón, Laura E Kilpatrick, Clément Conil, et al.The Journal of Allergy and Clinical Immunology|October 13, 2022
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeJennifer W Leiding, Tiphanie P Vogel, Valentine G J Santarlas, et al.Nature|November 8, 2023
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiencyTom Le Voyer, Audrey V Parent, Xian Liu, et al.Journal of Clinical Immunology|April 5, 2024
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET ReportJohn McDonnell, Kimberley Cousins, M Elizabeth M Younger, et al.Pageof 29