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Article

Human germline heterozygous gain-of-function <i>STAT6</i> variants cause severe allergic disease

10 Feb 2023

Abstract excerpt

STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. We have identified 16 patients from 10 families spanning three continents with a profound phenotype of early-life onset allergic immune dysregulation, widespread treatment-resistant atopic dermatitis, hypereosinophilia with esosinophilic gastrointestinal...

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PMID: 36884218
DOI: 10.1084/jem.20221755

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