DISEASES

Disease-gene associations mined from literature

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,  SCID due to DNA-PKcs deficiency,  immunodeficiency 26, with or without neurologic abnormalities ...