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Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
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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.
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“These results suggest that JAK1 inhibition and IL-4Rα antagonism both lead to suppression of STAT6 activation 34,35 , thereby reducing downstream type 2-associated inflammatory signalling within the HDM-VSA model.”
From Vascularized human skin assembloids model compartmental skin organization and immune responsiveness in vitro (2026) · cites this paper as [35]
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Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency
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Self-citationMolecular Diagnostic Outcomes from 700 Cases
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Metadata
- Authors
- Sharma, M., Leung, D., Momenilandi, M., Jones, L. C. W., Pacillo, L., James, A. E., Murrell, J. R., Delafontaine, S., Maimaris, J., Vaseghi-Shanjani, M., Del Bel, K. L., Lu, H. Y., Chua, G. T., Di Cesare, S., Fornes, O., Liu, Z., Di Matteo, G., Fu, M. P., Amodio, D., Tam, I. Y. S., Chan, G. S. W., Sharma, A. A., Dalmann, J., van der Lee, R., Blanchard-Rohner, G., Lin, S., Philippot, Q., Richmond, P. A., Lee, J. J., Matthews, A., Seear, M., Turvey, A. K., Philips, R. L., Brown-Whitehorn, T. F., Gray, C. J., Izumi, K., Treat, J. R., Wood, K. H., Lack, J., Khleborodova, A., Niemela, J. E., Yang, X., Liang, R., Kui, L., Wong, C. S. M., Poon, G. W. K., Hoischen, A., van der Made, C. I., Yang, J., Chan, K. W., Rosa Duque, J. S. D., Lee, P. P. W., Ho, M. H. K., Chung, B. H. Y., Le, H. T. M., Yang, W., Rohani, P., Fouladvand, A., Rokni-Zadeh, H., Changi-Ashtiani, M., Miryounesi, M., Puel, A., Shahrooei, M., Finocchi, A., Rossi, P., Rivalta, B., Cifaldi, C., Novelli, A., Passarelli, C., Arasi, S., Bullens, D., Sauer, K., Claeys, T., Biggs, C. M., Morris, E. C., Rosenzweig, S. D., O’Shea, J. J., Wasserman, W. W., Bedford, H. M., van Karnebeek, C. D. M., Palma, P., Burns, S. O., Meyts, I., Casanova, J.-L., Lyons, J. J., Parvaneh, N., Nguyen, A. T. V., Cancrini, C., Heimall, J., Ahmed, H., McKinnon, M. L., Lau, Y. L., Béziat, V., & Turvey, S. E.
- Affiliations
- University of British Columbia (CA)
- University of Hong Kong (HK)
- Hôpital Necker-Enfants Malades (FR)
- University of Rome Tor Vergata (IT)
- National Institutes of Health (US)
- Children's Hospital of Philadelphia (US)
- Universitair Ziekenhuis Leuven (BE)
- Royal Free London NHS Foundation Trust (GB)
- Dept. of Pediatrics, BC Children’s Hospital, University of British Columbia 1 , Vancouver, Canada
- Broad Institute (US)
- Union Hospital (HK)
- Dept. of System Medicine, Pediatric Chair, University of Tor Vergata 5 , Rome, Italy
- Centre for Molecular Medicine and Therapeutics, BC Children’s Hospital Research Institute 18 , Vancouver, Canada
- Academic Dept. of Pediatrics (DPUO), 6 , Rome, Italy
- Bambino Gesù Children's Hospital (IT)
- Queen Mary Hospital (CN)
- Emory University (US)
- University of Toronto (CA)
- University of Pennsylvania (US)
- National Institutes of Health Clinical Center (US)
- University of California San Diego (US)
- Radboud University Medical Center (NL)
- Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong 2 , Hong Kong, China
- Vinmec Times City International Hospital (VN)
- Children's Medical Center (IR)
- Lorestan University of Medical Sciences (IR)
- Dept. of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences 41 , Zanjan, Iran
- School of Mathematics, Institute for Research in Fundamental Sciences 42 , Tehran, Iran
- Shahid Beheshti University (IR)
- KU Leuven (BE)
- AZ Sint-Jan (BE)
- BC Children's Hospital Research Institute (CA)
- Amsterdam University Medical Centers (NL)
- Vietnam National Children's Hospital (VN)
- McMaster University (CA)
- Corresponding author
- Sharma, Mehul
- Turvey, Stuart E.
- ORCID
- Sharma, Mehul
- Leung, Daniel
- Momenilandi, Mana
- Jones, Lauren C.W.
- Pacillo, Lucia
- James, Alyssa E.
- Murrell, Jill R.
- Delafontaine, Selket
- Maimaris, Jesmeen
- Vaseghi-Shanjani, Maryam
- Del Bel, Kate L.
- Lu, Henry Y.
- Chua, Gilbert T.
- Di Cesare, Silvia
- Fornes, Oriol
- Liu, Zhongyi
- Di Matteo, Gigliola
- Fu, Maggie P.
- Amodio, Donato
- Tam, Issan Yee San
- Chan, Gavin Shueng Wai
- Sharma, Ashish A.
- Dalmann, Joshua
- van der Lee, Robin
- Blanchard-Rohner, Géraldine
- Lin, Susan
- Philippot, Quentin
- Richmond, Phillip A.
- Lee, Jessica J.
- Matthews, Allison
- Seear, Michael
- Turvey, Alexandra K.
- Philips, Rachael L.
- Brown-Whitehorn, Terri F.
- Gray, Christopher J.
- Izumi, Kosuke
- Treat, James R.
- Wood, Kathleen H.
- Lack, Justin
- Khleborodova, Asya
- Niemela, Julie E.
- Yang, Xingtian
- Liang, Rui
- Kui, Lin
- Wong, Christina Sze Man
- Poon, Grace Wing Kit
- Hoischen, Alexander
- van der Made, Caspar I.
- Yang, Jing
- Chan, Koon Wing
- Rosa Duque, Jaime Sou Da
- Lee, Pamela Pui Wah
- Ho, Marco Hok Kung
- Chung, Brian Hon Yin
- Le, Huong Thi Minh
- Yang, Wanling
- Rohani, Pejman
- Fouladvand, Ali
- Rokni-Zadeh, Hassan
- Changi-Ashtiani, Majid
- Miryounesi, Mohammad
- Puel, Anne
- Shahrooei, Mohammad
- Finocchi, Andrea
- Rossi, Paolo
- Rivalta, Beatrice
- Cifaldi, Cristina
- Novelli, Antonio
- Passarelli, Chiara
- Arasi, Stefania
- Bullens, Dominique
- Sauer, Kate
- Claeys, Tania
- Biggs, Catherine M.
- Morris, Emma C.
- Rosenzweig, Sergio D.
- O’Shea, John J.
- Wasserman, Wyeth W.
- Bedford, H. Melanie
- van Karnebeek, Clara D.M.
- Palma, Paolo
- Burns, Siobhan O.
- Meyts, Isabelle
- Casanova, Jean-Laurent
- Lyons, Jonathan J.
- Parvaneh, Nima
- Nguyen, Anh Thi Van
- Cancrini, Caterina
- Heimall, Jennifer
- Ahmed, Hanan
- McKinnon, Margaret L.
- Lau, Yu Lung
- Béziat, Vivien
- Turvey, Stuart E.
- Venue
- Journal of Experimental Medicine
- Publisher
- Rockefeller University Press
- Published
- 2023-03-08
- Volume
- 220
- Issue
- 5
- ISSN
- 0022-1007 (ISSN-L)
- 1540-9538
- PMC
- PMC10037107
- OpenAlex
- W4323533826
- Cited by
- 125
- References
- 130
- Citations by year
- 2026: 31 · 2025: 33 · 2024: 33 · 2023: 26
- FWCI
- 14.14
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The Journal of Experimental Medicine (publishedVersion, cc-by)
- medRxiv (acceptedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- HAL (submittedVersion, cc-by)
- Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion, cc-by)
- UCL Discovery (University College London) (submittedVersion, cc-by)
- Lirias (KU Leuven) (submittedVersion, cc-by)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion, cc-by)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, other-oa)
- Funders
- Canadian Institutes of Health Research (PJT 178054)
- Genome British Columbia (SIP007)
- BC Children’s Hospital Foundation
- Canada Research Chair
- CIHR Frederick Banting
- University of British Columbia
- Charles Best Canada Graduate Scholarships Doctoral Award
- BC Children’s Hospital Research Institute
- Vanier Canada
- Elizabeth Paige Lavin Endowed Chair
- National Institute of Allergy and Infectious Diseases
- National Institutes of Health
- Howard Hughes Medical Institute
- Rockefeller University
- St. Giles Foundation
- French National Research Agency (ANR-10-IAHU-01, ANR CARMIL2, ANR-21-CE15-0034)
- Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID)
- French Foundation for Medical Research (EQU201903007798)
- Square Foundation
- Institut National de la Santé et de la Recherche Médicale
- Paris University Cité
- Children’s Hospital Bambino Gesù
- Italian Ministry of Health (NET-2011-02350069)
- PENTA Foundation UK
- ViiV Healthcare UK
- Society for the Relief of Disabled Children
- Jeffrey Modell Foundation
- Chung Ko Lee and Cheung Yuen Kan Education and Research Fund
- Croucher Foundation
- Edward & Yolanda Wong Fund
- Instituts Thématiques Multiorganismes
- Institut National du Cancer
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Asthma and respiratory diseases
- Health Sciences › Medicine › Dermatology › Dermatology and Skin Diseases
- Keywords
- STAT6, gain-of-function mutations, germline mutations, allergic diseases, atopic dermatitis, hypereosinophilia, eosinophilic gastrointestinal disorders, asthma, IgE-mediated food allergy, anaphylaxis, Th2 polarization, dupilumab, autosomal dominant inheritance, STAT6 phosphorylation
- MeSH terms
- Gain of Function Mutation, Asthma, Food Hypersensitivity, Humans, Immunoglobulin E, STAT6 Transcription Factor
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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