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Severe combined immunodeficiency due to DCLRE1C deficiency

Disease definition

Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.

ORPHA:275

  • Synonym(s):
    • SCID due to ARTEMIS deficiency
    • SCID due to DCLRE1C deficiency
    • SCID, Athabascan type
    • SCID, Athabaskan type
    • Severe combined immunodeficiency due to ARTEMIS deficiency
    • Severe combined immunodeficiency, Athabascan type
    • Severe combined immunodeficiency, Athabaskan type
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.1
  • OMIM: 602450
  • UMLS: C1865372
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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