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The multiple causes of human SCID

2004/11/15 by Rebecca H. Buckley · 1 citation
Medicine · Immunology and Microbiology · #Cytomegalovirus and herpesvirus research #Immunodeficiency and Autoimmune Disorders #CAR-T cell therapy research #Biology #CD3 #T-cell receptor #Immune system #Acquired immune system #Receptor #Adenosine deaminase #Severe combined immunodeficiency #Antigen #Cell biology #T cell #Gene #Immunology #CD8 #Biochemistry #Enzyme

paper · doi:10.1172/jci23571

openalex publication_date 2004/11/15 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

Abstract

SCID, a syndrome characterized by the absence of T cells and adaptive immunity, can result from mutations in multiple genes that encode components of the immune system. Three such components are cytokine receptor chains or signaling molecules, five are needed for antigen receptor development, one is adenosine deaminase--a purine salvage pathway enzyme, and the last is a phosphatase, CD45. In this issue of the JCI, a report describes how complete deficiency of the CD3epsilon chain of the T cell antigen receptor/CD3 complex causes human SCID.

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