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Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat, Vivien; Tavernier, Simon J; Chen, Yin-Huai; Ma, Cindy S; Materna, Marie; Laurence, Arian; Staal, Jens; Aschenbrenner, Dominik; Roels, Lisa; Worley, Lisa; Claes, Kathleen; Gartner, Lisa; Kohn, Lisa A; De Bruyne, Marieke; Schmitz-Abe, Klaus; Charbonnier, Louis-Marie; Keles, Sevgi; Nammour, Justine; Vladikine, Natasha; Maglorius Renkilaraj, Majistor Raj Luxman; Seeleuthner, Yoann; Migaud, Mélanie; Rosain, Jérémie; Jeljeli, Mohamed; Boisson, Bertrand; Van Braeckel, Eva; Rosenfeld, Jill A; Dai, Hongzheng; Burrage, Lindsay C; Murdock, David R; Lambrecht, Bart N; Avettand-Fenoel, Véronique; Vogel, Tiphanie P; Esther, Charles R; Haskologlu, Sule; Dogu, Figen; Ciznar, Peter; Boutboul, David; Ouachée-Chardin, Marie; Amourette, Jean; Lebras, Marie-Noëlle; Gauvain, Clément; Tcherakian, Colas; Ikinciogullari, Aydan; Beyaert, Rudi; Abel, Laurent; Milner, Joshua D; Grimbacher, Bodo; Couderc, Louis-Jean; Butte, Manish J.
Afiliación
  • Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.
  • Tavernier SJ; University of Paris, Imagine Institute, Paris, France.
  • Chen YH; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Ma CS; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.
  • Materna M; VIB-UGent Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Ghent, Belgium.
  • Laurence A; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Staal J; Department of Paediatrics, University of Oxford, Oxford, UK.
  • Aschenbrenner D; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, Australia.
  • Roels L; St. Vincent's Clinical School, UNSW Sydney, Sydney, New South Wales, Australia.
  • Worley L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.
  • Claes K; University of Paris, Imagine Institute, Paris, France.
  • Gartner L; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Kohn LA; Department of Paediatrics, University of Oxford, Oxford, UK.
  • De Bruyne M; VIB-UGent Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Ghent, Belgium.
  • Schmitz-Abe K; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Charbonnier LM; Department of Paediatrics, University of Oxford, Oxford, UK.
  • Keles S; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.
  • Nammour J; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, Australia.
  • Vladikine N; St. Vincent's Clinical School, UNSW Sydney, Sydney, New South Wales, Australia.
  • Maglorius Renkilaraj MRL; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Seeleuthner Y; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Migaud M; Department of Paediatrics, University of Oxford, Oxford, UK.
  • Rosain J; Division of Immunology, Allergy, and Rheumatology, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA.
  • Jeljeli M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Boisson B; Division of Newborn Medicine and Neonatal Genomics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Van Braeckel E; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Rosenfeld JA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Dai H; Department of Pediatrics, Harvard Medical School, Boston, MA.
  • Burrage LC; Division of Immunology, Boston Children's Hospital, Boston, MA.
  • Murdock DR; Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey.
  • Lambrecht BN; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.
  • Avettand-Fenoel V; University of Paris, Imagine Institute, Paris, France.
  • Vogel TP; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.
  • Esther CR; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.
  • Haskologlu S; University of Paris, Imagine Institute, Paris, France.
  • Dogu F; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.
  • Ciznar P; University of Paris, Imagine Institute, Paris, France.
  • Boutboul D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.
  • Ouachée-Chardin M; University of Paris, Imagine Institute, Paris, France.
  • Amourette J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.
  • Lebras MN; University of Paris, Imagine Institute, Paris, France.
  • Gauvain C; Cochin University Hospital, Biological Immunology Unit, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Tcherakian C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.
  • Ikinciogullari A; University of Paris, Imagine Institute, Paris, France.
  • Beyaert R; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Abel L; Department of Respiratory Medicine, Ghent University Hospital, Ghent Belgium.
  • Milner JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Grimbacher B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Couderc LJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Butte MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
J Exp Med ; 217(6)2020 06 01.
Article en En | MEDLINE | ID: mdl-32207811
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptor gp130 de Citocinas / Genes Dominantes / Síndrome de Job / Mutación Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Exp Med Año: 2020 Tipo del documento: Article País de afiliación: Francia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptor gp130 de Citocinas / Genes Dominantes / Síndrome de Job / Mutación Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Exp Med Año: 2020 Tipo del documento: Article País de afiliación: Francia