Cernunnos deficiency is a form of combined immunodeficiency characterized by microcephaly, due to mutations in the NHEJ1 gene, it is inherited via autosomal recessive manner[2][1] Management for this condition is antiviral prophylaxis and antibiotic treatment[medical citation needed]
| Cernunnos deficiency | |
|---|---|
| Other names | Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, Cernunnos XLFD |
 | |
| Cernunnos deficiency is inherited via autosomal recession | |
| Symptoms | Microcephaly[1] |
| Causes | NHEJ1 gene mutation[1] |
| Diagnostic method | Clinical features[1] |
| Treatment | Immunoglobulin replacement, HSCT[1] |
Symptoms and signs
The sign and symptoms of this condition on an affected individual are as follows:[1]
- Recurrent infections
- Microcephaly
- Growth retardation
- Bone-malformation
- Dysmorphic feature
- Urogenital malformations
Cause
In terms of genetics the condition, Cernunnos deficiency is due to a mutation in the NHEJ1 gene, it has a cytogenetic location of 2q35, while its molecular location is 219,075,324 to 219,160,865 [3][2]
Mechanism
The pathophysiology of Cernunnos deficiency begins with normal function of Non-homologous end-joining factor 1 gene.NHEJ1 encodes a protein which helps repair of breaks in double-stranded DNA. It might additionally act as a connection between XRCC4 and other NHEJ factors (at DNA ends)[4][3][5]
When a mutation occurs in NHEJ1, then one sees that nucleotide deletions cause V(D)J recombination, signal joints, to be affected.[6] V(D)J recombination is a genetic recombination that happens in early stages of B and T cell maturation.[7]
Diagnosis
The diagnosis of Cernunnos deficiency will find the following in an affected individual via clinical features and blood test:[6][1]
- B lymphopenia
- T lymphopenia
- Hypogammaglobulinemia with low IgA
- Hypogammaglobulinemia with low IgM
Differencial diagnosis
The DDx for Cernunnos deficiency are both LIG4 syndrome, as well as Nijmegen breakage syndrome[1]
Management
In terms of management for Cernunnos deficiency, one finds that treatment with allogeneic hematopoietic stem cell transplantation, which are stem cells that bring about other cells[8]) has proven useful in some instances. Additionally the following treatments are also used:[9][1]
- Antibiotic treatment
- Immunoglobulin replacement
See also
References
Further reading
- Ratcliffe, Michael (2016). Encyclopedia of Immunobiology (Vol 1 Development and phylogeny of the immune system ed.). Academic Press. ISBN 9780080921525. Retrieved 13 July 2017.
External links
