OBO ID: DOID:0111961
Term Name: immunodeficiency 26 Search Ontology:
Synonyms:
  • IMD26
  • immunodeficiency 26, with or without neurologic abnormalities
  • SCID due to DNA-PKcs deficiency
  • 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 PRKDC on chromosome 8q11.21. (2)
References:
  • NCI:C176795
  • OMIM:615966
  • ORDO:317425
  • UMLS_CUI:C4014833
Ontology: Human Disease   (DOID:0111961)
OTHER immunodeficiency 26 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRKDC Immunodeficiency 26, with or without neurologic abnormalities 615966
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None