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Article

Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

PloS one - 18 Aug 2010

Offer Steven M, Pan-Hammarström Qiang, Hammarström Lennart, Harris Reuben S

Abstract excerpt

BACKGROUND: Despite considerable effort, the genetic factors responsible for >90% of the antibody deficiency syndromes IgAD and CVID remain elusive. To produce a functionally diverse antibody repertoire B lymphocytes undergo class switch recombination. This process is initiated by AID-catalyzed deamination of cytidine to uridine in switch region DNA. Subsequently, these residues are recognized by the uracil...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20805886
DOI: 10.1371/journal.pone.0012260
PMCID: PMC2923613

Genes

MLH1
MSH2
RAD50
MSH6
PMS2
RAD52

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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