ZAP-70 deficiency in an autosomal recessive form o...[Science. 1994]

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1: Science. 1994 Jun 10;264(5165):1599-601. Links

ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency.

Chan AC, Kadlecek TA, Elder ME, Filipovich AH, Kuo WL, Iwashima M, Parslow TG, Weiss A.

Howard Hughes Medical Institute, Department of Medicine, University of California, San Francisco 94143.

Protein tyrosine kinases (PTKs) play an integral role in T cell activation and differentiation. Defects in the Src-family PTKs in mice and in T cell lines have resulted in variable defects in thymic development and in T cell antigen receptor (TCR) signal transduction. Here, three siblings are described with an autosomal recessive form of severe combined immunodeficiency disease (SCID) in which ZAP-70, a non-Src PTK, is absent as a result of mutations in the ZAP-70 gene. This absence is associated with defects in TCR signal transduction, suggesting an important functional role for ZAP-70.

PMID: 8202713 [PubMed - indexed for MEDLINE]

Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. [Science. 1994]
Reconstitution of T cell receptor signaling in ZAP-70-deficient cells by retroviral transduction of the ZAP-70 gene. [J Exp Med. 1996]
Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70. [J Immunol. 2001]
ZAP-70 and defects of T-cell receptor signaling. [Semin Hematol. 1998]
Activation of ZAP-70 kinase activity by phosphorylation of tyrosine 493 is required for lymphocyte antigen receptor function. [EMBO J. 1995]
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ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency.

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