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Article

Immune dysfunction in nucleotide excision repair disorders: an underrecognized clinical phenotype with relevance for inborn errors of immunity.

Frontiers in immunology - 1 Jan 2026

Rossmanith Raphael, Wolf Hermann M, Geier Christoph B

Abstract excerpt

Nucleotide excision repair (NER) is a conserved genome maintenance pathway that removes bulky, helix-distorting DNA lesions, including ultraviolet-induced photoproducts and chemically induced adducts. By restoring DNA integrity, NER preserves transcriptional continuity and replicative fitness, thereby limiting mutagenesis, replication stress, and cell death. Inherited defects in NER genes cause rare disorders...

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Identifiers

PMID: 42490886
DOI: 10.3389/fimmu.2026.1865775
PMCID: PMC13375527

Genes

CD4
CS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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