| Metadata | |
|---|---|
| ID | DOID:0111943 |
| Name | immunodeficiency 48 |
| 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. https://pubmed.ncbi.nlm.nih.gov/2511270/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
combined immunodeficiency due to ZAP70 deficiency [EXACT] IMD48 [EXACT] zeta-associated-protein 70 deficiency [EXACT] |
| Parent Relationships |
is_a T cell deficiency |