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J Clin Invest. 2004 Nov;114(10):1409-11.

The multiple causes of human SCID.

Author information

1
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA. buckL003@mc.duke.edu

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.

PMID:
15545990
PMCID:
PMC525750
DOI:
10.1172/JCI23571
[Indexed for MEDLINE]
Free PMC Article

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