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Article

NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study.

RMD open - 20 Dec 2023

Miao Junke, Zhang Jingyuan, Huang Xin, Wu Na, Wu Di, Shen Min

Abstract excerpt

BACKGROUND: NLRP12-associated autoinflammatory disease (NLRP12-AID) is an autosomal dominant autoinflammatory disorder caused by variants of NLRP12 gene. We aimed to report a cohort of Chinese adult patients with NLRP12-AID and summarised phenotypes and genotypes. METHODS: Twenty patients were diagnosed with NLRP12-AID after performing whole-exome sequencing and were included in our cohort. Demographic...

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Identifiers

PMID: 38123482
DOI: 10.1136/rmdopen-2023-003598

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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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