Combined immunodeficiency due to ZAP70 deficiency
Engelsk navn: Combined immunodeficiency due to ZAP70 deficiency
Engelske synonym: Zeta-associated-protein 70 deficiency
Definisjon
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.
Fra Orphanet
ORPHA: 911
Klassifiseringsnivå: Disorder
ICD-10: D81.8