Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency

Abstract

Inherited defects of DNA double-stranded break (DSB) repair can result in radiosensitive/radiation-sensitive (RS) SCID (RS-SCID). We applied base editing to reverse NHEJ1 mutations in patient fibroblasts, exemplifying how this technology can help interrogate RS sequence variants.

Abstract of "Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency" by Kadirkamanathan R, Preece R, Woodbine L et al., https://doi.org/10.70962/jhi.20260068, used under its Creative Commons Attribution license (CC-BY); markup removed, otherwise unmodified.