{"id":"doi:10.70962/jhi.20260068","kind":"article","title":"Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency","authors":["Kadirkamanathan R","Preece R","Woodbine L","Korneeva E","Lazareva A","Ip W","Qasim W"],"author_count":7,"year":2026,"published":"2026-09-03","venue":"Journal of human immunity","cited_by":0,"doi":"10.70962/jhi.20260068","arxiv_id":null,"nct_id":null,"source_url":"https://doi.org/10.70962/jhi.20260068","archive_url":"https://space-kitty.com/papers/doi:10.70962/jhi.20260068","updated":null,"pmid":"42690170","pmcid":"PMC13540376","openalex_id":null,"pdf_url":"https://europepmc.org/articles/PMC13540376/pdf","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_license":"CC-BY (article license as recorded by Europe PMC; abstract reproduced unmodified apart from markup removal)","license":"CC-BY","is_open_access":true,"retracted":false,"peer_reviewed":null,"categories":[],"details":null,"provenance":"europepmc","attribution":"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.","topics":[{"slug":"gene-editing-therapies","name":"CRISPR & Gene-Editing Therapies","domain_slug":"medicine"}],"cited_in_dossiers":[]}