Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency

Renuka Kadirkamanathan; Roland Preece; Lisa Woodbine; Elena Korneeva; Arina Lazareva; Winnie Ip; Waseem Qasim

doi:10.70962/jhi.20260068

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Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency

Renuka Kadirkamanathan, Roland Preece, Lisa Woodbine, Elena Korneeva, Arina Lazareva, Winnie Ip, Waseem Qasim

Journal of Human Immunity2026doi:10.70962/jhi.20260068

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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.

Authors

Renuka Kadirkamanathan#1 Roland Preece#2 Lisa Woodbine#3 Elena Korneeva#4 Arina Lazareva#5 Winnie Ip#6 Waseem Qasim#7

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External reference records

PRKDC mutations in a SCID patient with profound neurological abnormalities

10.1172/jci67349 · 2013

Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage

10.1038/nature24644 · 2017

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

10.1016/j.cell.2005.12.030 · 2006

Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening

10.1093/hmg/ddx098 · 2017

Unconstrained genome targeting with near-PAMless engineered CRISPR-Cas9 variants

10.1126/science.aba8853 · 2020

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