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Article

XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.

The Journal of allergy and clinical immunology - 1 Oct 2015

Guo Chaowan, Nakazawa Yuka, Woodbine Lisa, Björkman Andrea, Shimada Mayuko, Fawcett Heather, Jia Nan, Ohyama Kaname, Li Tao-Sheng, Nagayama Yuji, Mitsutake Norisato, Pan-Hammarström Qiang, Gennery Andrew R, Lehmann Alan R, Jeggo Penny A, Ogi Tomoo

Abstract excerpt

BACKGROUND: Nonhomologous end-joining (NHEJ) is the major DNA double-strand break (DSB) repair mechanism in human cells. The final rejoining step requires DNA ligase IV (LIG4) together with the partner proteins X-ray repair cross-complementing protein 4 (XRCC4) and XRCC4-like factor. Patients with mutations in genes encoding LIG4, XRCC4-like factor, or the other NHEJ proteins DNA-dependent protein kinase...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26255102
DOI: 10.1016/j.jaci.2015.06.007

Genes

XRCC4
LIG4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.PMID 26255102Read ↗

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