- databases for immunodeficiency-causing variations

   Variation registry for  ZAP70 deficiency

ZAP70base mutation publications

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Search PubMed latest citations for ZAP70 mutations


  • Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.
    Turul T, Tezcan I, Artac H, de Bruin-Versteeg S, Barendregt BH, Reisli I, Sanal O, van Dongen JJ, van der Burg M
    Eur J Pediatr 2009(1): 87-93 [PubMed abstract].


  • Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70.
    Elder ME, Skoda-Smith S, Kadlecek TA, Wang F, Wu J, Weiss A
    J Immunol 2001(1): 656-61 [PubMed abstract].


  • Differential requirement of ZAP-70 for CD2-mediated activation pathways of mature human T cells.
    Meinl E, Lengenfelder D, Blank N, Pirzer R, Barata L, Hivroz C
    J Immunol 2000(7): 3578-83 [PubMed abstract].

  • Alternative antigen receptor (TCR) signaling in T cells derived from ZAP-70-deficient patients expressing high levels of Syk.
    Noraz N, Schwarz K, Steinberg M, Dardalhon V, Rebouissou C, Hipskind R, Friedrich W, Yssel H, Bacon K, Taylor N
    J Biol Chem 2000(21): 15832-8 [PubMed abstract].


  • Temperature-sensitive ZAP70 mutants degrading through a proteasome-independent pathway. Restoration of a kinase domain mutant by Cdc37.
    Matsuda S, Suzuki-Fujimoto T, Minowa A, Ueno H, Katamura K, Koyasu S
    J Biol Chem 1999(49): 34515-8 [PubMed abstract].


  • Phenotypic features of selective T cell deficiency characterized by absence of CD8+ T lymphocytes and undetectable mRNA for ZAP-70 kinase.
    Mazer B, Harbeck RJ, Franklin R, Schwinzer R, Kubo R, Hayward A, Gelfand EW
    Clin Immunol Immunopathol 1997(2): 129-38 [PubMed abstract].


  • Severe combined immunodeficiency due to a defect in the tyrosine kinase ZAP-70.
    Elder ME
    Pediatr Res 1996(5): 743-8 [PubMed abstract].


  • Severe combined immunodeficiency with absence of peripheral blood CD8+ T cells due to ZAP-70 deficiency.
    Elder ME, Hope TJ, Parslow TG, Umetsu DT, Wara DW, Cowan MJ
    Cell Immunol 1995(1): 110-7 [PubMed abstract].


  • 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
    Science 1994(5165): 1599-601 [PubMed abstract].

  • Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase.
    Elder ME, Lin D, Clever J, Chan AC, Hope TJ, Weiss A, Parslow TG
    Science 1994(5165): 1596-9 [PubMed abstract].

  • Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase.
    Arpaia E, Shahar M, Dadi H, Cohen A, Roifman CM
    Cell 1994(5): 947-58 [PubMed abstract].