Cernunnos deficiency
| 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] |
Cernunnos deficiency is a form of combined
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
- Urogenitalmalformations
Cause
In terms of genetics the condition, Cernunnos deficiency is due to a mutation in the
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
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
- IgA
- 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
- Immunoglobulinreplacement
See also
- Cernunnos
- Combined immunodeficiency
References
- ^ a b c d e f g h i RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Cernunnos XLF deficiency". www.orpha.net. Retrieved 2017-06-22.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ a b "OMIM Entry - # 611291 - SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION". omim.org. Retrieved 2017-06-22.
- ^ a b Reference, Genetics Home. "NHEJ1 gene". Genetics Home Reference. Retrieved 2017-06-22.
- ^ "NHEJ1 non-homologous end joining factor 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-07-13.
- ^ "OMIM Entry - * 611290 - NONHOMOLOGOUS END-JOINING FACTOR 1; NHEJ1". www.omim.org. Retrieved 2017-07-13.
- ^ ISBN 9783540789369.
- )
- ^ "Bone Marrow (Hematopoietic) Stem Cells | stemcells.nih.gov". stemcells.nih.gov. Archived from the original on 2021-05-15. Retrieved 2017-07-13.
- ISBN 9780124058606.
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
