Cernunnos deficiency

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Cernunnos deficiency
Synonyms	XLF deficiency, X-ray repair cross-complementing protein 4-like factor deficiency
Pronounce	N/A
Specialty	Immunology, Genetics
Symptoms	Immunodeficiency, microcephaly, growth retardation, developmental delay
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Mutations in the NHEJ1 gene
Risks	Family history of the condition
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Severe combined immunodeficiency, Ataxia-telangiectasia, Nijmegen breakage syndrome
Prevention	N/A
Treatment	Hematopoietic stem cell transplantation, supportive care
Medication	N/A
Prognosis	Variable, depending on severity and treatment
Frequency	Rare
Deaths	N/A

Structure of the NHEJ1 protein

Schematic of IgM antibody

Cernunnos deficiency is a rare genetic disorder characterized by a deficiency in the Cernunnos protein, which plays a crucial role in the repair of DNA double-strand breaks. This condition is also known as XLF deficiency or NHEJ1 deficiency, named after the gene that encodes the Cernunnos protein.

Symptoms

The symptoms of Cernunnos deficiency can vary widely among affected individuals. Common symptoms include microcephaly (small head size), growth retardation, immune deficiency, and increased susceptibility to cancer. Some individuals may also have radiosensitivity, which means they are more sensitive to radiation than normal.

Causes

Cernunnos deficiency is caused by mutations in the NHEJ1 gene, which provides instructions for making the Cernunnos protein. This protein is involved in the process of non-homologous end joining (NHEJ), a method that cells use to repair DNA double-strand breaks. Mutations in the NHEJ1 gene disrupt the function of the Cernunnos protein, leading to an increased risk of DNA damage and the associated symptoms of Cernunnos deficiency.

Diagnosis

Diagnosis of Cernunnos deficiency is based on the presence of characteristic symptoms, a detailed patient history, and specialized laboratory tests. Genetic testing can confirm a diagnosis by identifying a mutation in the NHEJ1 gene.

Treatment

There is currently no cure for Cernunnos deficiency. Treatment is symptomatic and supportive, and may include regular monitoring for cancer, immune system support, and management of other symptoms as needed.

See also

• DNA repair
• Genetic disorders
• Microcephaly
• Cancer

References

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