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Article

Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization.

Frontiers in immunology - 1 Jan 2022

Tian Yi, Wu Bingxuan, Peng Linyi, Wang Jian, Shen Min

Abstract excerpt

Objective: Haploinsufficiency of A20 (HA20) is a newly described rare autoinflammatory disease caused by TNFAIP3 gene mutations. HA20 has seldom been documented in the Chinese population. Herein, we report eight patients with HA20 from three unrelated families in China. Methods: Eight Chinese Han patients were diagnosed with HA20 in our department from 2018 to 2021. Their clinical data and genotypes were...

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Identifiers

PMID: 35958611
DOI: 10.3389/fimmu.2022.955079
PMCID: PMC9360992

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