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 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]
Cernunnosdeficiency is a form of combined immunodeficiency characterized by microcephaly, due to mutations in the NHEJ1 gene, it is inherited via autosomal...
LAT (gene) deficiency T-/B- SCID (both T and B cells absent) RAG 1/2 deficiency DCLRE1C (Artemis) deficiency XLF (protein)/Cernunnosdeficiency DNA PKcs...
also known as Cernunnos or XLF). DNA ligase 4 (Lig4) has a highly specific role in the repair of double-strand breaks by NHEJ. Lig4 deficiency in the mouse...
features similar to Nijmegen Breakage Syndrome include RAD50 deficiency and Cernunnos/NHEJ deficiency. NBS is caused by a mutation in the NBS1 gene, located...
involves the bridging of DNA to DNA ligase 4 , by hXRCC4, with the aid of Cernunnos-XLF. DNA-PKcs and hXRCC4 are anchored to Ku70 / Ku80 heterodimer, which...
further interacts with the DNA-dependent protein kinase (DNA-PK) and XLF/Cernunnos, which are also required for NHEJ. The crystal structure of the Lig4/XRCC4...
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