Academic Journal
Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond
| العنوان: | Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond |
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| المؤلفون: | Sharma, Mehul, Suratannon, Narissara, Leung, Daniel, Baris, Safa, Takeuchi, Ichiro, Samra, Simran, Yanagi, Kumiko, Rosa Duque, Jaime, S, Benamar, Mehdi, del Bel, Kate, L, Momenilandi, Mana, Béziat, Vivien, Casanova, Jean-Laurent, van Hagen, P. Martin, Arai, Katsuhiro, Nomura, Ichiro, Kaname, Tadashi, Chatchatee, Pantipa, Morita, Hideaki, Chatila, Talal, A, Lau, Yu Lung, Turvey, Stuart, E |
| المساهمون: | Univ Utah Hosp & Clin, Int Travel Clin, Salt Lake City, UT USA, Marmara University Kadıköy - İstanbul, Nagoya University, Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Rockefeller University New York, St. Giles Laboratory of Human Genetics of Infectious Diseases, Howard Hughes Medical Institute (HHMI), Erasmus University Medical Center Rotterdam (Erasmus MC), Oyama National College of Technology (Oyama College), Oyama National College of Technology, Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, Instituts Thématiques Multiorganismes (ITMO) Cancer of Aviesan, and Institut National du Cancer (INCa) within the framework of the 2021–2030 Cancer Control Strategy, ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-21-CE15-0034,CARMIL2,Bases moléculaires, cellulaires et immunologiques de la déficience combinée résultant de mutations dans CARMIL2(2021) |
| المصدر: | ISSN: 1471-4906 ; Trends in Immunology ; https://hal.science/hal-04876482 ; Trends in Immunology, 2024, 45 (2), pp.138-153. ⟨10.1016/j.it.2023.12.003⟩. |
| بيانات النشر: | CCSD Elsevier |
| سنة النشر: | 2024 |
| مصطلحات موضوعية: | [SDV]Life Sciences [q-bio] |
| الوصف: | International audience ; Signal transducer and activator of transcription (STAT)-6 is a transcription factor central to pro-allergic immune responses, although the function of human STAT6 at the whole-organism level has long remained unknown. Germline heterozygous gain-of-function (GOF) rare variants in STAT6 have been recently recognized to cause a broad and severe clinical phenotype of early-onset, multi-system allergic disease. Here, we provide an overview of the clinical presentation of STAT6-GOF disease, discussing how dysregulation of the STAT6 pathway causes severe allergic disease, and identifying possible targeted treatment approaches. Finally, we explore the mechanistic overlap between STAT6-GOF disease and other monogenic atopic disorders, and how this group of inborn errors of immunity (IEIs) powerfully inform our fundamental understanding of common human allergic disease. Rapid growth in the discovery of human primary atopic disorders IEIs (see Glossary) are a group of genetic disorders in which products of immunity genes are missing or dysfunctional. They are typically caused by monogenic germline variants that result in altered expression or function of the encoded protein [1-3]. Driven by recent advances in the accessibility, affordability, and efficiency of next-generation sequencing (NGS) technology, the number of recognized human IEIs is rapidly increasing [4,5]. As of 2022, the International Union of Immunological Societies (IUIS) listed 485 single-gene defects as IEIs, with 55 novel defects identified since 2020 [2]. Although individually rare diseases, as a group, the cumulative prevalence of human IEIs is now estimated to be at least 1 in 1000 in the general population [6,7]; and probably higher, as attested, for example, by homozygosity for the P1104A variant in the TYK2 protein that may underlie TB in ∼1% of European patients [8,9]. While IEIs were first recognized in patients with increased susceptibility to infection, notable allergic inflammation occurs in many classic IEIs [10]. ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1016/j.it.2023.12.003 |
| الاتاحة: | https://hal.science/hal-04876482 https://hal.science/hal-04876482v1/document https://hal.science/hal-04876482v1/file/1-s2.0-S1471490623002636-main.pdf https://doi.org/10.1016/j.it.2023.12.003 |
| Rights: | info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.521969F8 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.it.2023.12.003 |
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