The multiple causes of human SCID

被引:65
作者
Buckley, RH [1 ]
机构
[1] Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA
关键词
D O I
10.1172/JCI200423571
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
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 (see the related article beginning on page 1512).
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页码:1409 / 1411
页数:3
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