ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency
AC Chan, TA Kadlecek, ME Elder, AH Filipovich… - Science, 1994 - science.org
Science, 1994•science.org
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 …
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 …
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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