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Article

Low-ratio somatic NLRC4 mutation causes late-onset autoinflammatory disease.

Annals of the rheumatic diseases - 1 Aug 2022

Wang Jun, Ye Qiao, Zheng Wenjie, Yu Xiaomin, Luo Fang, Fang Ran, Shangguan Yaoyao, Du Zhijun, Lee Pui Y, Jin Taijie, Zhou Qing

Abstract excerpt

OBJECTIVES: We aim to investigate the genetic basis of a case of late-onset autoinflammatory disease characterised by arthritis, recurrent fever and skin rashes. METHODS: We performed whole-exome/genome sequencing and digital droplet PCR (ddPCR) to identify the pathogenic somatic mutation. We used single-cell RNA sequencing (scRNA-seq), intracellular cytokine staining, quantitative PCR, immunohistochemistry and...

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Identifiers

PMID: 35428651
DOI: 10.1136/annrheumdis-2021-221708

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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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