ZAP70 deficiency
From Wikipedia, the free encyclopedia
ZAP70 deficiency (zeta-chain-associated protein 70 kD) is a rare autosomal recessive form of severe combined immunodeficiency (SCID) that is characterized by a lack of CD8+ T cells and the presence of circulating CD4+ T cells that are unresponsive to T-cell receptor (TCR)-mediated stimuli.
[edit] External links
- IDR Factfile
- ZAP70base: Mutation registry for autosomal recessive ZAP70 deficiency
- Mendelian Inheritance in Man (OMIM) 176947
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