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Science. 1994 Jun 10;264(5165):1596-9.

Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase.

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Department of Pediatrics, University of California, San Francisco 94143-0110.


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.

[Indexed for MEDLINE]

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