immunodeficiency 48 (DOID:0111943)
Alliance: disease page
Synonyms: combined immunodeficiency due to ZAP70 deficiency; IMD48; zeta-associated-protein 70 deficiency
Alt IDs: OMIM:269840, MESH:C537590, ORDO:911, UMLS_CUI:C1849236
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.