Human Severe Combined Immunodeficiency Due to a Defect in ZAP-70, a T Cell Tyrosine Kinase
- 10 June 1994
- journal article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 264 (5165) , 1596-1599
- https://doi.org/10.1126/science.8202712
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.Keywords
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