Details of Disease

General Information of Disease (ID: DISQ70ZZ)

• Disease Name: Cernunnos-XLF deficiency
• Synonyms: severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiation; SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency; SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency; SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation; severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation; severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency; severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency; Nhej1 syndrome; combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome; Cernunnos-XLF deficiency; NHEJ1 deficiency; combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome; Cernunnos XLFD; Cernunnos deficiency
• Definition: Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.
• Disease Hierarchy:
  DIS8RTG7: Familial severe combined immunodeficiency
  DIS225UQ: T-B- severe combined immunodeficiency
  DISQ70ZZ: Cernunnos-XLF deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0012650
  MESH ID: C566970
  UMLS CUI: C1969799
  OMIM ID: 611291
  MedGen ID: 369590
  Orphanet ID: 169079

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NHEJ1	OTYOO05J	Definitive	Autosomal recessive	[1]

References

• [1] 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.