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Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.
Asano, Takaki; Khourieh, Joëlle; Zhang, Peng; Rapaport, Franck; Spaan, András N; Li, Juan; Lei, Wei-Te; Pelham, Simon J; Hum, David; Chrabieh, Maya; Han, Ji Eun; Guérin, Antoine; Mackie, Joseph; Gupta, Sudhir; Saikia, Biman; Baghdadi, Jamila E I; Fadil, Ilham; Bousfiha, Aziz; Habib, Tanwir; Marr, Nico; Ganeshanandan, Luckshman; Peake, Jane; Droney, Luke; Williams, Andrew; Celmeli, Fatih; Hatipoglu, Nevin; Ozcelik, Tayfun; Picard, Capucine; Abel, Laurent; Tangye, Stuart G; Boisson-Dupuis, Stéphanie; Zhang, Qian; Puel, Anne; Béziat, Vivien; Casanova, Jean-Laurent; Boisson, Bertrand.
Afiliação
  • 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.
  • Zhang P; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.
  • 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; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Han JE; Paris University, Imagine Institute, Paris, France.
  • Guérin A; Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.
  • Mackie J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Gupta S; Garvan Institute of Medical Research, Darlinghurst, Australia.
  • Saikia B; St. Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia.
  • Baghdadi JEI; Garvan Institute of Medical Research, Darlinghurst, Australia.
  • Fadil I; St. Vincent's Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia.
  • Bousfiha A; Division of Basic and Clinical Immunology, Department of Medicine, School of Medicine, University of California, Irvine, Irvine, CA.
  • Habib T; Department of Immunopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
  • Marr N; Genetics Unit, Military Hospital Mohamed V, Rabat, Morocco.
  • Ganeshanandan L; Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, Casablanca, Morocco.
  • Peake J; Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Children's Hospital, Averroes University Hospital Center, Casablanca, Morocco.
  • Droney L; Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, Casablanca, Morocco.
  • Williams A; Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Children's Hospital, Averroes University Hospital Center, Casablanca, Morocco.
  • Celmeli F; Research Branch, Sidra Medicine, Qatar Foundation, Doha, Qatar.
  • Hatipoglu N; Research Branch, Sidra Medicine, Qatar Foundation, Doha, Qatar.
  • Ozcelik T; College of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.
  • Picard C; Department of Clinical Immunology, PathWest Laboratory Medicine Western Australia, Fiona Stanley Hospital, Perth, Australia.
  • Abel L; Queensland Children's Hospital, South Brisbane, Australia.
  • Tangye SG; Department of Clinical Immunology, Princess Alexandra Hospital, Brisbane, Australia.
  • Boisson-Dupuis S; Immunology Laboratory, Children's Hospital Westmead, Westmead, Australia.
  • Zhang Q; Department of Allergy and Immunology, University of Medical Science Antalya Education and Research Hospital, Antalya, Turkey.
  • Puel A; Bakirkoy Dr Sadi Konuk Education and Training Hospital, Istanbul, Turkey.
  • Béziat V; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.
  • Casanova JL; Université de Paris, Paris, France.
  • Boisson B; Study Center for Primary Immunodeficiencies, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
J Exp Med ; 218(8)2021 08 02.
Article em En | MEDLINE | ID: mdl-34137790

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator de Transcrição STAT3 / Genes Dominantes / Síndrome de Job / Mutação Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: J Exp Med Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator de Transcrição STAT3 / Genes Dominantes / Síndrome de Job / Mutação Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: J Exp Med Ano de publicação: 2021 Tipo de documento: Article