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....
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2024-01-01
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Series: | Journal of Immunology Research |
Online Access: | http://dx.doi.org/10.1155/2024/5722548 |