ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency
作者： A. Chan , T. Kadlecek , M. Elder , A. Filipovich , W. Kuo
关键词: Cancer research 、 Mutation 、 Receptor 、 Biology 、 T lymphocyte 、 Signal transduction 、 Immunology 、 T-cell receptor 、 Severe combined immunodeficiency 、 Point mutation 、 T cell
摘要: Protein tyrosine kinases (PTKs) play an integral role in T cell activation and differentiation. Defects the Src-family PTKs mice lines have resulted variable defects thymic development antigen receptor (TCR) signal transduction. Here, three siblings are described with autosomal recessive form of severe combined immunodeficiency disease (SCID) which ZAP-70, a non-Src PTK, is absent as result mutations ZAP-70 gene. This absence associated TCR transduction, suggesting important functional for ZAP-70.
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