immunodeficiency 26 (DOID:0111961)
Alliance: disease page
Synonyms: IMD26; immunodeficiency 26, with or without neurologic abnormalities; SCID due to DNA-PKcs deficiency; severe combined immunodeficiency due to DNA-PKcs deficiency
Alt IDs: OMIM:615966, NCI:C176795, ORDO:317425, UMLS_CUI:C4014833
Definition: A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21.