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International Journal of Biological Sciences|October 20, 2022
Serological responses to human virome define clinical outcomes of Italian patients infected with SARS-CoV-2Limin Wang, Julián Candia, Lichun Ma, et al.
The Journal of Infectious Diseases|January 20, 2021
Lost in Translation: Lack of CD4 Expression due to a Novel Genetic DefectAndrea Lisco, Peying Ye, Chun-Shu Wong, et al.
Blood|September 29, 2007
Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow TransplantationHulya Ozsahin, Marina Cavazzana-Calvo, Luigi D Notarangelo, et al.
Blood|May 22, 2010
Hypomorphic Rag mutations can cause destructive midline granulomatous diseaseSuk See De Ravin, Edward W Cowen, Kol A Zarember, et al.
The Journal of Experimental Medicine|May 20, 2025
A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosisMaryam Vaseghi-Shanjani, Mehul Sharma, Pariya Yousefi, et al.
Blood|November 1, 2011
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivoMike Recher, Lucinda J Berglund, Danielle T Avery, et al.
The Journal of Allergy and Clinical Immunology|April 29, 2014
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spotsGiancarlo la Marca, Clementina Canessa, Elisa Giocaliere, et al.
Clinical Immunology (Orlando, Fla.)|September 10, 2002
Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter studyAlessandro Plebani, Annarosa Soresina, Roberto Rondelli, et al.
Blood|June 16, 2016
Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficienciesPatrick M Brauer, Itai M Pessach, Erik Clarke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
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