دورية أكاديمية
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
| العنوان: | Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. |
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| المؤلفون: | Horesh ME; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Martin-Fernandez M; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gruber C; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Buta S; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France.; Imagine Institute, University of Paris , Paris, France.; Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France., Puzenat E; Department of Dermatology and INSERM 1098, University of Bourgogne-Franche Comté, Besançon, France., Lesmana H; Genomic Medicine Institute, Cleveland Clinic Foundation , Cleveland, OH, USA.; Department of Pediatric Hematology, Oncology and Bone Marrow Transplantation, Cleveland Clinic, Cleveland, OH, USA., Wu Y; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Richardson A; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Stein D; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Hodeib S; Department of Paediatric Infectious Diseases and Virology, Imperial College London, London, UK.; Imperial College London, Centre for Paediatrics and Child Health , London, UK., Youssef M; Department of Pediatrics, Division of Pediatric Allergy, Immunology and Rheumatology, Columbia University, New York, NY, USA., Kurowski JA; Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Cleveland Clinic, Cleveland, OH, USA., Feuille E; Weill Cornell Medicine , New York, NY, USA., Pedroza LA; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA., Fuleihan RL; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA., Haseley A; Center for Personalized Genetic Healthcare, Cleveland Clinic Foundation , Cleveland, OH, USA., Hovnanian A; Imagine Institute, University of Paris , Paris, France.; Laboratory of Genetic Skin Diseases, INSERM U1163, Paris, France., Quartier P; Université Paris-Cité , Paris, France.; Paediatric Hematology-Immunology and Rheumatology Unit, Hopital Necker-Enfants Malades, Assistance Publique-Hopitaux de Paris, Paris, Fance., Rosain J; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France.; Imagine Institute, University of Paris , Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children , Paris, France., Davis G; Department of Immunology, Derriford Hospital, Plymouth, UK., Mullan D; Department of Immunology, Derriford Hospital, Plymouth, UK., Stewart O; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Patel R; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Lee AE; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Rubinstein R; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Ewald L; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Maheshwari N; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Rahming V; Columbia University Irving Medical Center , New York, NY, USA., Chinn IK; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Division of Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA., Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine , Houston, TX, USA., Orange JS; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA., Sancho-Shimizu V; Department of Paediatric Infectious Diseases and Virology, Imperial College London, London, UK.; Imperial College London, Centre for Paediatrics and Child Health , London, UK., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France.; Imagine Institute, University of Paris , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute , New Yor, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France., Abul-Husn NS; Department of Medicine, Division of Genomic Medicine, Icahn School of Medicine at Mount Sinai, Institute for Genomic Health, New York, NY, USA., Itan Y; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Milner JD; Department of Pediatrics, Division of Pediatric Allergy, Immunology and Rheumatology, Columbia University, New York, NY, USA., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France.; Imagine Institute, University of Paris , Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA., Bogunovic D; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Hiroshima University, Hiroshima, Japan. |
| المصدر: | The Journal of experimental medicine [J Exp Med] 2024 Jun 03; Vol. 221 (6). Date of Electronic Publication: 2024 Apr 02. |
| نوع المنشور: | Systematic Review; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York, NY : Rockefeller University Press |
| مواضيع طبية MeSH: | Colitis*/genetics , Hypersensitivity* , Dermatitis*, Humans ; Autoimmunity ; Inflammation ; Janus Kinase 1/genetics |
| مستخلص: | Inborn errors of immunity lead to autoimmunity, inflammation, allergy, infection, and/or malignancy. Disease-causing JAK1 gain-of-function (GoF) mutations are considered exceedingly rare and have been identified in only four families. Here, we use forward and reverse genetics to identify 59 individuals harboring one of four heterozygous JAK1 variants. In vitro and ex vivo analysis of these variants revealed hyperactive baseline and cytokine-induced STAT phosphorylation and interferon-stimulated gene (ISG) levels compared with wild-type JAK1. A systematic review of electronic health records from the BioME Biobank revealed increased likelihood of clinical presentation with autoimmunity, atopy, colitis, and/or dermatitis in JAK1 variant-positive individuals. Finally, treatment of one affected patient with severe atopic dermatitis using the JAK1/JAK2-selective inhibitor, baricitinib, resulted in clinically significant improvement. These findings suggest that individually rare JAK1 GoF variants may underlie an emerging syndrome with more common presentations of autoimmune and inflammatory disease (JAACD syndrome). More broadly, individuals who present with such conditions may benefit from genetic testing for the presence of JAK1 GoF variants. (© 2024 Bogunovic et al.) |
| التعليقات: | Erratum in: J Exp Med. 2024 Jun 3;221(6):e2023238704302024c. doi: 10.1084/jem.2023238704302024c. (PMID: 38709237) |
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| معلومات مُعتمدة: | R01 AI127372 United States AI NIAID NIH HHS; R24 AI167802 United States AI NIAID NIH HHS; R01 AI120989 United States AI NIAID NIH HHS; R01 AI148963 United States AI NIAID NIH HHS; T32 GM007280 United States GM NIGMS NIH HHS; 5T32GM007280 United States GM NIGMS NIH HHS; T32 AI078892 United States AI NIAID NIH HHS; R01 AI151029 United States AI NIAID NIH HHS |
| المشرفين على المادة: | EC 2.7.10.2 (JAK1 protein, human) EC 2.7.10.2 (Janus Kinase 1) |
| تواريخ الأحداث: | Date Created: 20240402 Date Completed: 20240403 Latest Revision: 20240703 |
| رمز التحديث: | 20240703 |
| مُعرف محوري في PubMed: | PMC10986756 |
| DOI: | 10.1084/jem.20232387 |
| PMID: | 38563820 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1540-9538 |
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| DOI: | 10.1084/jem.20232387 |