Article
Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature.
Orphanet journal of rare diseases - 6 Jun 2022
Zhou Yu, Wang Wei, Zhong Linqing, Wang Lin, Ma Mingsheng, Tang Xiaoyan, Li Zhuo, Wang Changyan, Gou Lijuan, Zhang Tiannan, Song Hongmei
Abstract excerpt
BACKGROUND: NLRP3-associated autoinflammatory disease (NLRP3-AID), caused by mutations of NLRP3, is one of the autoinflammatory diseases affecting inflammasomes. Since there are little cases of Chinese NLRP3-AID, we reported 14 Chinese NLRP3-AID patients in our center and summarized the clinical features of all Chinese patients by reviewing the literature. RESULTS: Fourteen patients had been diagnosed as...
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