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