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Rockefeller University Press, Journal of Experimental Medicine, 5(220), 2023

DOI: 10.1084/jem.20221755

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Human germline heterozygous gain-of-functionSTAT6variants cause severe allergic disease

Journal article published in 2023 by Mehul Sharma ORCID, Daniel Leung ORCID, Mana Momenilandi ORCID, Lauren C. W. Jones ORCID, Lucia Pacillo ORCID, Alyssa E. James ORCID, Jill R. Murrell ORCID, Selket Delafontaine ORCID, Jesmeen Maimaris ORCID, Maryam Vaseghi-Shanjani ORCID, Kate L. Del Bel ORCID, Henry Y. Lu ORCID, Gilbert T. Chua ORCID, Silvia Di Cesare ORCID, Oriol Fornes ORCID and other authors.
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

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 disease, asthma, elevated serum IgE, IgE-mediated food allergies, and anaphylaxis. The cases were either sporadic (seven kindreds) or followed an autosomal dominant inheritance pattern (three kindreds). All patients carried monoallelic rare variants in STAT6 and functional studies established their gain-of-function (GOF) phenotype with sustained STAT6 phosphorylation, increased STAT6 target gene expression, and TH2 skewing. Precision treatment with the anti–IL-4Rα antibody, dupilumab, was highly effective improving both clinical manifestations and immunological biomarkers. This study identifies heterozygous GOF variants in STAT6 as a novel autosomal dominant allergic disorder. We anticipate that our discovery of multiple kindreds with germline STAT6 GOF variants will facilitate the recognition of more affected individuals and the full definition of this new primary atopic disorder.