Scientific article
OA Policy
English

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

ContributorsSharma, Mehulorcid; Leung, Danielorcid; Momenilandi, Manaorcid; Jones, Lauren C Worcid; Pacillo, Luciaorcid; James, Alyssa Eorcid; Murrell, Jill Rorcid; Delafontaine, Selketorcid; Maimaris, Jesmeenorcid; Vaseghi-Shanjani, Maryamorcid; Del Bel, Kate Lorcid; Lu, Henry Yorcid; Chua, Gilbert Torcid; Di Cesare, Silviaorcid; Fornes, Oriolorcid; Liu, Zhongyiorcid; Di Matteo, Gigliolaorcid; Fu, Maggie Porcid; Amodio, Donatoorcid; Tam, Issan Yee Sanorcid; Chan, Gavin Shueng Waiorcid; Sharma, Ashish Aorcid; Dalmann, Joshuaorcid; van der Lee, Robinorcid; Blanchard Rohner, Géraldineorcid; Lin, Susanorcid; Philippot, Quentinorcid; Richmond, Phillip Aorcid; Lee, Jessica Jorcid; Matthews, Allisonorcid; Seear, Michaelorcid; Turvey, Alexandra Korcid; Philips, Rachael Lorcid; Brown-Whitehorn, Terri Forcid; Gray, Christopher Jorcid; Izumi, Kosukeorcid; Treat, James Rorcid; Wood, Kathleen Horcid; Lack, Justinorcid; Khleborodova, Asyaorcid; Niemela, Julie Eorcid; Yang, Xingtianorcid; Liang, Ruiorcid; Kui, Linorcid; Wong, Christina Sze Manorcid; Poon, Grace Wing Kitorcid; Hoischen, Alexanderorcid; van der Made, Caspar Iorcid; Yang, Jingorcid; Chan, Koon Wingorcid; Rosa Duque, Jaime Sou Daorcid; Lee, Pamela Pui Wahorcid; Ho, Marco Hok Kungorcid; Chung, Brian Hon Yinorcid; Le, Huong Thi Minhorcid; Yang, Wanlingorcid; Rohani, Pejmanorcid; Fouladvand, Aliorcid; Rokni-Zadeh, Hassanorcid; Changi-Ashtiani, Majidorcid; Miryounesi, Mohammadorcid; Puel, Anneorcid; Shahrooei, Mohammadorcid; Finocchi, Andreaorcid; Rossi, Paoloorcid; Rivalta, Beatriceorcid; Cifaldi, Cristinaorcid; Novelli, Antonioorcid; Passarelli, Chiaraorcid; Arasi, Stefaniaorcid; Bullens, Dominiqueorcid; Sauer, Kateorcid; Claeys, Taniaorcid; Biggs, Catherine Morcid; Morris, Emma Corcid; Rosenzweig, Sergio Dorcid; O'Shea, John J; Wasserman, Wyeth Worcid; Bedford, H Melanieorcid; van Karnebeek, Clara D Morcid; Palma, Paoloorcid; Burns, Siobhan O; Meyts, Isabelleorcid; Casanova, Jean-Laurentorcid; Lyons, Jonathan Jorcid; Parvaneh, Nimaorcid; Nguyen, Anh Thi Vanorcid; Cancrini, Caterinaorcid; Heimall, Jenniferorcid; Ahmed, Hananorcid; McKinnon, Margaret Lorcid; Lau, Yu Lungorcid; Béziat, Vivienorcid; Turvey, Stuart Eorcid
Published inThe Journal of experimental medicine, vol. 220, no. 5, e20221755
Publication date2023-05-01
First online date2023-03-08
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.

Keywords
  • Humans
  • STAT6 Transcription Factor
  • Gain of Function Mutation
  • Asthma
  • Food Hypersensitivity
  • Immunoglobulin E / genetics
Citation (ISO format)
SHARMA, Mehul et al. Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. In: The Journal of experimental medicine, 2023, vol. 220, n° 5, p. e20221755. doi: 10.1084/jem.20221755
Main files (1)
Article (Published version)
Identifiers
Journal ISSN0022-1007
61views
32downloads

Technical informations

Creation08/08/2024 10:26:06
First validation07/10/2024 15:38:59
Update24/03/2026 09:01:49
Status update24/03/2026 09:01:49
Last indexation24/03/2026 09:04:05
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack