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Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase | | M E Elder
; D Lin
; J Clever
; A C Chan
; T J Hope
; A Weiss
; T G Parslow
; | | Date: |
10 Jun 1994 | | Journal: | Science, 264 (5165), 1596-9 | | Abstract: | A homozygous mutation in the kinase domain of ZAP-70, a T cell receptor-associated protein tyrosine kinase, produced a distinctive form of human severe combined immunodeficiency. Manifestations of this disorder included profound immunodeficiency, absence of peripheral CD8+ T cells, and abundant peripheral CD4+ T cells that were refractory to T cell receptor-mediated activation. These findings demonstrate that ZAP-70 is essential for human T cell function and suggest that CD4+ and CD8+ T cells depend on different intracellular signaling pathways to support their development or survival. | | Source: | PubMed, pmid8202712 | | Services: | Forum | Review | Favorites | |
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