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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Animals
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Base Sequence
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Calcium / metabolism
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Cell Line
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Child
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Female
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Gene Deletion
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Genes, Recessive*
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Humans
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Lymphocyte Activation
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Male
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Molecular Sequence Data
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Mutation
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Point Mutation
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Protein-Tyrosine Kinases / deficiency
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Protein-Tyrosine Kinases / genetics*
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Protein-Tyrosine Kinases / metabolism
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Receptors, Antigen, T-Cell / metabolism*
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Severe Combined Immunodeficiency / genetics*
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Severe Combined Immunodeficiency / immunology
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Signal Transduction*
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T-Lymphocyte Subsets / immunology
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ZAP-70 Protein-Tyrosine Kinase
Substances
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Receptors, Antigen, T-Cell
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Protein-Tyrosine Kinases
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ZAP-70 Protein-Tyrosine Kinase
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ZAP70 protein, human
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Calcium