Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses

Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses

Purpose. NLRP3-associated autoinflammatory disease (NLRP3-AID) is characterized by gain-of-function variants in the NLRP3 gene. Since there are little literature focusing on pediatric NLRP3-AID in China, we aimed to elucidate the phenotypic and genotypic profiles of Chinese patients with NLRP3-AID....

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Main Authors: Yaoyao Shangguan, Xingru Ding, Le Ma, Yi-Xin Cai, Shulei Xiang, Xiu-Feng Huang, Yunyan Shen, Hai-Guo Yu, Wenjie Zheng
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Journal of Immunology Research
Online Access:http://dx.doi.org/10.1155/2024/5722548
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