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Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

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Title: Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.
Authors: Asano T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Khourieh J; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Rapaport F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Spaan AN; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Li J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Lei WT; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Pelham SJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Hum D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Chrabieh M; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France., Han JE; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY., Guérin A; Garvan Institute of Medical Research, Darlinghurst, Australia.; St. Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia., Mackie J; Garvan Institute of Medical Research, Darlinghurst, Australia.; St. Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia., Gupta S; Division of Basic and Clinical Immunology, Department of Medicine, School of Medicine, University of California, Irvine, Irvine, CA., Saikia B; Department of Immunopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Baghdadi JEI; Genetics Unit, Military Hospital Mohamed V, Rabat, Morocco., Fadil I; Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, Casablanca, Morocco.; Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Children's Hospital, Averroes University Hospital Center, Casablanca, Morocco., Bousfiha A; Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, Casablanca, Morocco.; Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Children's Hospital, Averroes University Hospital Center, Casablanca, Morocco., Habib T; Research Branch, Sidra Medicine, Qatar Foundation, Doha, Qatar., Marr N; Research Branch, Sidra Medicine, Qatar Foundation, Doha, Qatar.; College of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar., Ganeshanandan L; Department of Clinical Immunology, PathWest Laboratory Medicine Western Australia, Fiona Stanley Hospital, Perth, Australia., Peake J; Queensland Children's Hospital, South Brisbane, Australia., Droney L; Department of Clinical Immunology, Princess Alexandra Hospital, Brisbane, Australia., Williams A; Immunology Laboratory, Children's Hospital Westmead, Westmead, Australia., Celmeli F; Department of Allergy and Immunology, University of Medical Science Antalya Education and Research Hospital, Antalya, Turkey., Hatipoglu N; Bakirkoy Dr Sadi Konuk Education and Training Hospital, Istanbul, Turkey., Ozcelik T; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey., Picard C; Université de Paris, Paris, France.; Study Center for Primary Immunodeficiencies, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Institut National de la Santé et de la Recherche Médicale UMR 1163, Imagine Institute, Paris, France.; Pediatric Immunology-Hematology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France., Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France., Tangye SG; Garvan Institute of Medical Research, Darlinghurst, Australia.; St. Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia., Boisson-Dupuis S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France., Zhang Q; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France., Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France., Béziat V; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.; Howard Hughes Medical Institute, New York, NY., Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.
Source: The Journal of experimental medicine [J Exp Med] 2021 Aug 02; Vol. 218 (8). Date of Electronic Publication: 2021 Jun 17.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: 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
Database: MEDLINE Ultimate
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  Data: Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.
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  Data: <searchLink fieldCode="AU" term="%22Asano+T%22">Asano T</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Khourieh+J%22">Khourieh J</searchLink>; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Zhang+P%22">Zhang P</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Rapaport+F%22">Rapaport F</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Spaan+AN%22">Spaan AN</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Lei+WT%22">Lei WT</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Pelham+SJ%22">Pelham SJ</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Hum+D%22">Hum D</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Chrabieh+M%22">Chrabieh M</searchLink>; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Han+JE%22">Han JE</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Guérin+A%22">Guérin A</searchLink>; Garvan Institute of Medical Research, Darlinghurst, Australia.; St. Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Mackie+J%22">Mackie J</searchLink>; Garvan Institute of Medical Research, Darlinghurst, Australia.; St. Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Gupta+S%22">Gupta S</searchLink>; Division of Basic and Clinical Immunology, Department of Medicine, School of Medicine, University of California, Irvine, Irvine, CA.<br /><searchLink fieldCode="AU" term="%22Saikia+B%22">Saikia B</searchLink>; Department of Immunopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.<br /><searchLink fieldCode="AU" term="%22Baghdadi+JEI%22">Baghdadi JEI</searchLink>; Genetics Unit, Military Hospital Mohamed V, Rabat, Morocco.<br /><searchLink fieldCode="AU" term="%22Fadil+I%22">Fadil I</searchLink>; Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, Casablanca, Morocco.; Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Children's Hospital, Averroes University Hospital Center, Casablanca, Morocco.<br /><searchLink fieldCode="AU" term="%22Bousfiha+A%22">Bousfiha A</searchLink>; Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, Casablanca, Morocco.; Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Children's Hospital, Averroes University Hospital Center, Casablanca, Morocco.<br /><searchLink fieldCode="AU" term="%22Habib+T%22">Habib T</searchLink>; Research Branch, Sidra Medicine, Qatar Foundation, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Marr+N%22">Marr N</searchLink>; Research Branch, Sidra Medicine, Qatar Foundation, Doha, Qatar.; College of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Ganeshanandan+L%22">Ganeshanandan L</searchLink>; Department of Clinical Immunology, PathWest Laboratory Medicine Western Australia, Fiona Stanley Hospital, Perth, Australia.<br /><searchLink fieldCode="AU" term="%22Peake+J%22">Peake J</searchLink>; Queensland Children's Hospital, South Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Droney+L%22">Droney L</searchLink>; Department of Clinical Immunology, Princess Alexandra Hospital, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Williams+A%22">Williams A</searchLink>; Immunology Laboratory, Children's Hospital Westmead, Westmead, Australia.<br /><searchLink fieldCode="AU" term="%22Celmeli+F%22">Celmeli F</searchLink>; Department of Allergy and Immunology, University of Medical Science Antalya Education and Research Hospital, Antalya, Turkey.<br /><searchLink fieldCode="AU" term="%22Hatipoglu+N%22">Hatipoglu N</searchLink>; Bakirkoy Dr Sadi Konuk Education and Training Hospital, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Ozcelik+T%22">Ozcelik T</searchLink>; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Picard+C%22">Picard C</searchLink>; Université de Paris, Paris, France.; Study Center for Primary Immunodeficiencies, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Institut National de la Santé et de la Recherche Médicale UMR 1163, Imagine Institute, Paris, France.; Pediatric Immunology-Hematology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.<br /><searchLink fieldCode="AU" term="%22Abel+L%22">Abel L</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Tangye+SG%22">Tangye SG</searchLink>; Garvan Institute of Medical Research, Darlinghurst, Australia.; St. Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Boisson-Dupuis+S%22">Boisson-Dupuis S</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Zhang+Q%22">Zhang Q</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Puel+A%22">Puel A</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Béziat+V%22">Béziat V</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Casanova+JL%22">Casanova JL</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.; Howard Hughes Medical Institute, New York, NY.<br /><searchLink fieldCode="AU" term="%22Boisson+B%22">Boisson B</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Paris University, Imagine Institute, Paris, France.; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.
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