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...

पूर्ण विवरण

ग्रंथसूची विवरण

मुख्य लेखकों:	Ana María Navarro, Gabriela Mantilla, Jorge Andrés Fernández, Mario Fernando Unigarro, Alfonso Suárez, María Claudia Ortega
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	Instituto Nacional de Salud 2024-12-01
श्रृंखला:	Biomédica: revista del Instituto Nacional de Salud
विषय:	severe combined immunodeficiency dna end-joining repair immunogenetics genetics heredity syndrome
ऑनलाइन पहुंच:	https://revistabiomedica.org/index.php/biomedica/article/view/7414
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