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immunodeficiency 26
Summary
- Synonym
-
- IMD26
- SCID due to DNA-PKcs deficiency
- immunodeficiency 26, with or without neurologic abnormalities
- severe combined immunodeficiency due to DNA-PKcs deficiency
- 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.
- Super Class
- autosomal recessive disease severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:0111961
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
