Term Name: | immunodeficiency 48 |
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Synonyms: | combined immunodeficiency due to ZAP70 deficiency, IMD48, 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. |
Ontology: | Human Disease [DOID:0111943] ( DOID:0111943 ) |