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

Home/Archive/PubMed

PubMed · 42694638

Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency.

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

View original source ↗Export metadata ↓

Also available from

PubMed — 42690170 ↗

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.

Explore related subjects

Journal Article

Keep this discovery

BibTeX RIS

Renuka Kadirkamanathan, Roland Preece, Lisa Woodbine, Elena Korneeva, Arina Lazareva, Winnie Ip, Waseem Qasim. 2026-09-03. Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency.. https://doi.org/10.70962/jhi.20260068

Cite the original work for its findings. Save a collection to share your selection of sources.

Discover connections

Journal Article resource Journal Article subject

Connections use source metadata and explicit phrase matches, not verified experimental comparisons.

KEEP EXPLORING

Related citations

PubMed2026

Risk factors for leg wound infection after conventional and no-touch vein harvesting: insights from a multicentre randomised trial.

ClinicalTrials.gov: ID NCT03501303.

Humans↗

PubMed2026

Nationwide cohort study reveals low bifidobacteria and distinct microbiota composition and function in Swedish newborns.

NCT06285630.

Female↗

PubMed2026

Rare clinical complications following scorpion envenomation worldwide: A systematic review.

Scorpion envenomation is an important public health problem in many tropical and subtropical regions and may result in rare but life-threatening grade III complications involving multiple organ systems. This systematic review synthesizes published articles from 2000 to 2025 that describe uncommon, severe clinical manifestations following scorpion stings. A total of 71 rare clinical complications were identified, encompassing cardiovascular, neurological, respiratory, renal, hematological, ocular, dermatological, and other systemic manifestations. Cardiovascular complications were the most frequently reported, whereas neurological complications exhibited the greatest clinical diversity. Mesobuthus tamulus and Hemiscorpius lepturus were most commonly associated with severe complications, and children younger than 10 years appeared to be at increased risk of serious neurological involvement. These findings highlight the remarkable clinical heterogeneity of grade III scorpion envenomation and emphasize the importance of early recognition, species-specific clinical awareness, and timely management to reduce severe outcomes in endemic regions.

Humans↗