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immunodeficiency 48
Summary
- Synonym
-
- IMD48
- combined immunodeficiency due to ZAP70 deficiency
- zeta-associated-protein 70 deficiency
- Definition
- A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2.
- Super Class
- T cell deficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111943
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
