Condition: ZAP70 deficiency
rs104893674 in
ZAP70 gene and
ZAP70 deficiency
PMID 18509675 2009 Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.
PMID 8124727 1994 Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase.
PMID 8202713 1994 ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency.
PMID 11123350 2001 Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70.
PMID 11412303 2001 Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling.