Combined immunodeficiency due to ZAP70 deficiency

Definition

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.

Also known as zeta-associated-protein 70 deficiency — per MONDO

Also identified as

• DOID 0111943 per MONDO
• MESH C536722 per MONDO
• OMIM 269840 per MONDO
• Orphanet 911 per MONDO
• SCTID 716378008 per MONDO
• UMLS C2931299 per MONDO