title: ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency.
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.
authors.affiliation: Howard Hughes Medical Institute, Department of Medicine, University of California, San Francisco 94143.
authors.forename: A C
authors.initials: AC
authors.lastname: Chan
authors.forename: T A
authors.initials: TA
authors.lastname: Kadlecek
authors.forename: M E
authors.initials: ME
authors.lastname: Elder
authors.forename: A H
authors.initials: AH
authors.lastname: Filipovich
authors.forename: W L
authors.initials: WL
authors.lastname: Kuo
authors.forename: M
authors.initials: M
authors.lastname: Iwashima
authors.forename: T G
authors.initials: TG
authors.lastname: Parslow
authors.forename: A
authors.initials: A
authors.lastname: Weiss
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002118:Calcium / Q000378:metabolism; D002460:Cell Line; D002648:Child; D005260:Female; D017353:Gene Deletion; D005808:Genes, Recessive; D006801:Humans; D008213:Lymphocyte Activation; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D011948:Receptors, Antigen, T-Cell / Q000378:metabolism*; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology; D015398:Signal Transduction; D016176:T-Lymphocyte Subsets / Q000276:immunology; D051746:ZAP-70 Protein-Tyrosine Kinase
chemical_list: D011948:Receptors, Antigen, T-Cell; D011505:Protein-Tyrosine Kinases; D051746:ZAP-70 Protein-Tyrosine Kinase; C497261:ZAP70 protein, human; D002118:Calcium