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combined immunodeficiency due to ZAP70 deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.
Uniprot Description A form of severe immunodeficiency characterized by a selective absence of CD8+ T-cells.
Mondo Term and Equivalent IDs
MONDO:0010023:  combined immunodeficiency due to ZAP70 deficiency
GARD:0000387: 
MESH:C536722: 
Orphanet:911: 
SCTID:716378008: