Human genes for immunodeficiency 48
Immunodeficiency 48 [DOID:0111943]
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 ZAP70 on chromosome 2q11.2.
Synonyms: immunodeficiency 48, DOID:0111943, combined immunodeficiency due to ZAP70 deficiency, IMD48, zeta-associated-protein 70 deficiency ...