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