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Short description of the ZAP70base : ZAP-70 deficiency is a rare autosomal recessive form of severe combined immunodeficiency characterized by the selective absence of CD8+ T cells and by abundant CD4+ T cells in the peripheral blood that are unresponsive to T cell receptor (TCR)-mediated stimuli in vitro. Eight children from five families were described in the literature. ![]() ![]() Our other bioinformatics services: SH2base - Database for pathogenic SH2 domain variations KinMutBase - A registry of disease-causing variations in protein kinase domains IDbases are linked to University of California Santa Cruz (UCSC) genome browser: ZAP70base |
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