The multiple causes of human SCID.
editorial · Level V
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- Record sourced from PubMed, PMID 15545990.
- Also identified by PMC identifier 525750.
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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.
Medical subject headings
- Adenosine Deaminase
- CD3 Complex
- Protein Subunits
- Receptor-CD3 Complex, Antigen, T-Cell
- Receptors, Antigen, T-Cell
- Severe Combined Immunodeficiency