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

• Main Authors: Shirly Frizinsky (Author), Erez Rechavi (Author), Ortal Barel (Author), Yu Nee Lee (Author), Amos J. Simon (Author), Atar Lev (Author), Tali Stauber (Author), Etai Adam (Author), Raz Somech (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: 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...