Article
ZNF334 truncation mutation drives cold-induced autoinflammation.
EMBO molecular medicine - 1 Dec 2025
Lan Joung-Liang, Chang Shih-Hsin, Lai Yi-Hua, Li Ju-Pi, Chen Guan-Jun, Lin Yen-Ju, Huang Ya-Ling, Chiang Bor-Luen, Chang Jan-Gowth, Lu Guan-Yun, Tsai Tung-Lin, Lin Chien-Yu, Wang John, Li Yi-Chuan, Hung Mien-Chie, Yang Chin-An
Abstract excerpt
The role of zinc finger protein 334 (ZNF334) in immunological processes remains unknown. We identified a ZNF334 truncation mutation (p.Thr399fs) in a rare case of late-onset cold-induced autoinflammatory disease with elevated TNF-α, IL-1β, IL-6, and extracellular heat shock protein 90 (eHsp90) plasma levels and progressive sensorineural hearing loss. Using patient-derived monocytes and CRISPR/Cas9-edited THP-1...
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