Recombination junctions from antibody isotype switching classify immune and DNA repair dysfunction.

ABSTRACT: Personalized assessment of immunocompetence and DNA double-strand break (DSB) repair requires methods that are sensitive to genetic and molecular complexity beyond the well-known monogenic disorders. Inspired by decades of research using B cells to study DNA repair processes, here we present SWIBRID (SWItch junction Breakpoint Repertoire IDentification), a tool to systematically profile genomic junctions generated in vivo during antibody class switch recombination (CSR) in B cells. As CSR junctions reflect immune diversity and DNA repair proficiency, SWIBRID detects phenotypic manifestations of deficiencies via a highly scalable, blood-based PCR followed by long-read sequencing and bioinformatic analysis. We show that specific DNA repair defects, including cancer-associated mutations, exhi

SUBMITTER: Vazquez Garcia C 

PROVIDER: S-EPMC12722312 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature