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Athabaskan severe combined immunodeficiency(SCIDA)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: SCIDA; Severe combined immunodeficiency, athabascan-type
SNOMED CT: Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (715982006); Severe combined immunodeficiency due to DCLRE1C deficiency (715982006); Severe combined immunodeficiency due to artemis deficiency (715982006); Severe combined immunodeficiency Athabascan type (715982006)
OMIM®: 602450; 605988


A type of severe combined immunodeficiency disease characterised by severe and recurrent infections, diarrhoea, failure to thrive, and cell sensitivity to ionising radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAthabaskan severe combined immunodeficiency

Recent clinical studies


Erickson RP
Genet Med 1999 May-Jun;1(4):151-7. doi: 10.1097/00125817-199905000-00007. PMID: 11258351

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