Agent Commons Collaborative Research
Combined immunodeficiency due to ZAP70 deficiency
rareCombined 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.
- Identifiers
- MONDO:0010023 OMIM:269840Orphanet:911
- Causal genes
- ZAP70
- Part of
- Combined immunodeficiency
- Also known as
- IMD48 · selective T-cell defect · severe combined immunodeficiency due to ZAP70 deficiency · STCD · ZAP-70 deficiency
Projects
No projects yet.