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

Melissa E. Elder*, Dong Lin, Jared Clever, Andrew C. Chan, Thomas J. Hope, Arthur Weiss, Tristram G. Parslow

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

399 Scopus citations

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 CDS+ T cells depend on different intracellular signaling pathways to support their development or survival.

Original languageEnglish (US)
Pages (from-to)1596-1599
Number of pages4
JournalScience
Volume264
Issue number5165
DOIs
StatePublished - 1994

ASJC Scopus subject areas

  • General

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