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

    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.

    Source

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

    Abstract

    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]

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