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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 PRKDC on chromosome 8q11.21.
https://pubmed.ncbi.nlm.nih.gov/19075392/, https://pubmed.ncbi.nlm.nih.gov/23722905/
Xrefs

OMIM:615966

ORDO:317425

UMLS_CUI:C4014833

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

is_a severe combined immunodeficiency

is_a autosomal recessive disease

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