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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.
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.
The Journal of Allergy and Clinical Immunology|August 8, 2017
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)Desirée Schubert, Marie-Christine Klein, Sarah Hassdenteufel, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 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.
Journal of Clinical Immunology|July 3, 2013
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 6901Christopher C Dvorak, Morton J Cowan, Brent R Logan, et al.
Journal of Clinical Immunology|April 21, 2022
Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene TherapyDanielle E Arnold, Deepak Chellapandian, Suhag Parikh, et al.
The Journal of Allergy and Clinical Immunology|October 1, 2019
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & ImmunologyIvan K Chinn, Alice Y Chan, Karin Chen, et al.
Blood|May 6, 2018
B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantationAlexandra M Miggelbrink, Brent R Logan, Rebecca H Buckley, et al.
The New England Journal of Medicine|September 21, 2007
STAT3 mutations in the hyper-IgE syndromeSteven M Holland, Frank R DeLeo, Houda Z Elloumi, et al.
Clinical Immunology (Orlando, Fla.)|December 19, 2025
Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriersShanmuganathan Chandrakasan, Adrianna Westbrook, Linda M Griffith, et al.
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