| Metadata | |
|---|---|
| ID | DOID:0111961 |
| Name | immunodeficiency 26 |
| 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. https://pubmed.ncbi.nlm.nih.gov/19075392/, https://pubmed.ncbi.nlm.nih.gov/23722905/ |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
IMD26 [EXACT] immunodeficiency 26, with or without neurologic abnormalities [EXACT] SCID due to DNA-PKcs deficiency [EXACT] severe combined immunodeficiency due to DNA-PKcs deficiency [EXACT] |
| Parent Relationships |