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

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

Science (New York, N.Y.) (1994-06-10)
A C Chan, T A Kadlecek, M E Elder, A H Filipovich, W L Kuo, M Iwashima, T G Parslow, A Weiss
초록

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.