Cernunnos-XLF deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED
SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION
NHEJ1 SYNDROME SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED
Cernunnos XLFD
Combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation
Cernunnos deficiency
NHEJ1 deficiency
Number of Symptoms 13
OrphanetNr: 169079
OMIM Id: 611291
ICD-10: D81.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
2
 (HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
3
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
4
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
5
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
6
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
7
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
8
 (HPO:0001888) Lymphopenia Very frequent [Orphanet] 43 / 7739
9
 (HPO:0001873) Thrombocytopenia Frequent [Orphanet] 224 / 7739
10
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
11
 (HPO:0005352) Severe T-cell immunodeficiency Very frequent [Orphanet] 20 / 7739
12
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
13
 (HPO:0002960) Autoimmunity Occasional [Orphanet] 78 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Buck et al. (2006) reported 5 patients in which SCID was associated with microcephaly and growth retardation. Severe growth retardation and dystrophy were observed in 4 of the 5 patients, and microcephaly was present in all 5 patients ...
Molecular genetics OMIM Buck et al. (2006) identified mutations in the NHEJ1 gene (611290.0001 to 611290.0004) in all 5 patients they reported with SCID, microcephaly, growth retardation, and sensitivity to IR. Patient fibroblasts showed normal sensitivity to IR and normal V(D)J ...