Human genes for immunodeficiency 26
Immunodeficiency 26 [DOID:0111961]
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 PRKDC on chromosome 8q11.21.
Synonyms: immunodeficiency 26, DOID:0111961, IMD26, immunodeficiency 26, with or without neurologic abnormalities, SCID due to DNA-PKcs deficiency ...