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

CONCLUSIONS: Our study illuminated the distinct clinical and genetic features of Chinese NLRP3-AID patients, emphasizing the significance of early genetic screening. Despite delayed diagnosis, treatment primarily with glucocorticoids and biologic agents, led to favorable outcomes. Genetic heterogeneity, including a novel mutation, highlighted the complexity of NLRP3-AID in this population.PMID:38481988 | PMC:PMC10937081 | DOI:10.1155/2024/5722548

Source: Cell Research - March 14, 2024 Category: Cytology Authors: Yaoyao Shangguan Xingru Ding Le Ma Yi-Xin Cai Shulei Xiang Xiu-Feng Huang Yunyan Shen Hai-Guo Yu Wenjie Zheng Source Type: research