Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency

Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency

Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. This gene participates in the DNA non-homologous end-joining pathway, repairing double-strand breaks in the DNA of mammalian cells. The...

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Bibliographic Details
Main Authors: Ana María Navarro, Gabriela Mantilla, Jorge Andrés Fernández, Mario Fernando Unigarro, Alfonso Suárez, María Claudia Ortega
Format: Article
Language:English
Published: Instituto Nacional de Salud 2024-12-01
Series:Biomédica: revista del Instituto Nacional de Salud
Subjects:
severe combined immunodeficiency
dna end-joining repair
immunogenetics
genetics
heredity
syndrome
Online Access:https://revistabiomedica.org/index.php/biomedica/article/view/7414
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