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Science 10 June 1994: Vol. 264. no. 5165, pp. 1599 - 1601 DOI: 10.1126/science.8202713
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Articles
Science, Vol 264, Issue 5165, 1599-1601
Copyright © 1994 by American Association for the Advancement of Science
ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency
AC Chan,
TA Kadlecek,
ME Elder,
AH Filipovich,
WL Kuo,
M Iwashima,
TG Parslow,
and
A Weiss
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.
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