Details of Disease

General Information of Disease (ID: DISR36ZW)

• Disease Name: Severe combined immunodeficiency due to DCLRE1C deficiency
• Synonyms: SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionising radiation; Athabaskan Severe combined immunodeficiency; RS-SCID; severe combined immunodeficiency with sensitivity to ionizing radiation; SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation; severe combined immunodeficiency, Athabascan type; severe combined immunodeficiency, Athabaskan type; severe combined immunodeficiency with sensitivity to ionising radiation; artemis deficiency; severe combined immunodeficiency, Athabaskan-type; severe combined immunodeficiency, partial; SCID, Athabascan type; SCID due to ARTEMIS deficiency; SCID due to DCLRE1C deficiency; severe combined immunodeficiency (disease) caused by mutation in DCLRE1C; DCLRE1C severe combined immunodeficiency (disease); severe combined immunodeficiency due to ARTEMIS deficiency; severe combined immunodeficiency due to DCLRE1C deficiency; severe combined immunodeficiency due to artemis deficiency; SCID, Athabaskan type; SCID due to artemis deficiency
• Definition: Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
• Disease Hierarchy:
  DIS6MF4Q: Severe combined immunodeficiency
  DIS8RTG7: Familial severe combined immunodeficiency
  DIS225UQ: T-B- severe combined immunodeficiency
  DISN7YWO: DNA repair disease
  DISR36ZW: Severe combined immunodeficiency due to DCLRE1C deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0011225
  MESH ID: C537589
  UMLS CUI: C1865370
  OMIM ID: 602450
  MedGen ID: 355454
  Orphanet ID: 275

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LIG4	OT40DNXU	Strong	Biomarker	[1]
DCLRE1C	OTW3KB1I	Definitive	Autosomal recessive	[2]

References

• [1] Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency.Blood Adv. 2018 Aug 14;2(15):1828-1832. doi: 10.1182/bloodadvances.2018016113.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.