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

• Principais autores: Shirly Frizinsky (Autor), Erez Rechavi (Autor), Ortal Barel (Autor), Yu Nee Lee (Autor), Amos J. Simon (Autor), Atar Lev (Autor), Tali Stauber (Autor), Etai Adam (Autor), Raz Somech (Autor)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2022-07-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...