Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. [ Orphanet:169079 ]
Synonyms: combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome Cernunnos XLFD combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome NHEJ1 deficiency Cernunnos deficiency Cernunnos-XLF deficiency
Term information
- UMLS:C1969799 (OMIM:611291)
- GARD:17045 (Orphanet:169079)
- SCTID:720853005 (MONDO:equivalentTo)
- Orphanet:169079 (OMIM:611291)
- MESH:C566970 (MONDO:equivalentTo)
- OMIM:611291 (Orphanet:169079/e)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
http://linkedlifedata.com/resource/umls/id/C1969799
http://identifiers.org/mesh/C566970
https://omim.org/entry/611291
http://www.orpha.net/ORDO/Orphanet_169079
http://identifiers.org/snomedct/720853005
severe combined immunodeficiency with 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 ionising radiation
Nhej1 syndrome
severe combined immunodeficiency with 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
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing 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, with microcephaly, Growth retardation, and sensitivity to ionizing radiation