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Article

A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease.

Frontiers in immunology - 1 Jan 2022

Deng Mengyue, Li Yue, Li Yulu, Mao Xiaolan, Ke Han, Liang Weiling, Lei Xiaoguang, Lau Yu-Lung, Mao Huawei

Abstract excerpt

Signal transducer and activator of transcription 3 (STAT3) gain-of-function (GOF) mutations cause early-onset immune dysregulation syndrome, characterized by multi-organ autoimmunity and lymphoproliferation. Of them, interstitial lung disease (ILD) usually develops after the involvement of other organs, and the onset time is childhood and beyond rather than infancy. Here, we reported a patient who presented with...

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Identifiers

PMID: 35677041
DOI: 10.3389/fimmu.2022.866638
PMCID: PMC9169891

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