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Article

Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn.

Frontiers in immunology - 1 Jan 2023

Xie Mingyu, Wan Jingjing, Zheng Xin, Zou Xian, Chen Wanting, Zhang Kanglin, Yuan Huiting, Zhang Zhenhong, Zeng Haisheng

Abstract excerpt

Background: Cryopyrin-associated periodic syndromes (CAPS) have been considered autoinflammatory diseases resulting from NLRP3 gene mutations. In recent years, these conditions have been redefined as NLRP3-associated autoinflammatory diseases (NLRP3-AID). Our previous study highlighted a case of a Chinese individual carrying the de novo NLRP3 mutation. Results: A female child carrying a de novo variant...

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Identifiers

PMID: 37854599
DOI: 10.3389/fimmu.2023.1238551
PMCID: PMC10579556

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