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Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires

BackgroundDuring the process of generating diverse T and B cell receptor (TCR and BCR, respectively) repertoires, double-strand DNA breaks are produced. Subsequently, these breaks are corrected by a complex system led by the non-homologous end-joining (NHEJ). Pathogenic variants in genes involved in...

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Principais autores: Shirly Frizinsky, Erez Rechavi, Ortal Barel, Yu Nee Lee, Amos J. Simon, Atar Lev, Tali Stauber, Etai Adam, Raz Somech
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-07-01
coleção:Frontiers in Pediatrics
Assuntos:
severe combined immunodeficiency (SCID)
next-generation sequencing (NGS)
TCR repertoire
XLF/Cernunnos
NHEJ1
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fped.2022.883173/full
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