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The phenotype and genotype of Chinese adult patients with NLRP3-associated autoinflammatory disease.

Clinical rheumatology - 1 Oct 2023

Wu Na, Wu Di, Miao Junke, Zhao Mengzhu, Wang Yi, Yu Weihong, Shen Min

Abstract excerpt

OBJECTIVES: NLRP3-associated autoinflammatory disease (NLRP3-AID) is a spectrum of autosomal dominant inherited diseases associated with NLRP3 gene mutations. Reports of Chinese NLRP3-AID cases are limited to date. In the present study, we aim to describe the phenotype and genotype of a cohort of Chinese adult NLRP3-AID patients METHODS: This single-center study included sixteen adult patients diagnosed with...

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PMID: 37368056
DOI: 10.1007/s10067-023-06679-5

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