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ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
Lian, Jayson; Cuk, Mario; Kahlfuss, Sascha; Kozhaya, Lina; Vaeth, Martin; Rieux-Laucat, Frédéric; Picard, Capucine; Benson, Melina J; Jakovcevic, Antonia; Bilic, Karmen; Martinac, Iva; Stathopulos, Peter; Kacskovics, Imre; Vraetz, Thomas; Speckmann, Carsten; Ehl, Stephan; Issekutz, Thomas; Unutmaz, Derya; Feske, Stefan.
Afiliación
  • Lian J; Department of Pathology, New York University School of Medicine, New York, NY.
  • Cuk M; Department of Pediatrics, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia.
  • Kahlfuss S; Department of Pathology, New York University School of Medicine, New York, NY.
  • Kozhaya L; Jackson Laboratory for Genomic Medicine, Farmington, Conn.
  • Vaeth M; Department of Pathology, New York University School of Medicine, New York, NY.
  • Rieux-Laucat F; INSERM UMR 1163, Laboratory of the Immunogenetics of Pediatric Autoimmune Diseases, Paris, France; INSERM UMR1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Picard C; INSERM UMR1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France; Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (APHP), Necker Medical School, Paris, France.
  • Benson MJ; Department of Pathology, New York University School of Medicine, New York, NY.
  • Jakovcevic A; Department of Pathology and Cytology, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Bilic K; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia.
  • Martinac I; Department of Pediatrics, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia.
  • Stathopulos P; Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
  • Kacskovics I; ImmunoGenes, Budapest, Hungary.
  • Vraetz T; Department of Pediatric Hematology and Oncology, Center for Pediatrics, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Speckmann C; Department of Pediatric Hematology and Oncology, Center for Pediatrics, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Fr
  • Ehl S; Department of Pediatric Hematology and Oncology, Center for Pediatrics, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Fr
  • Issekutz T; Division of Immunology, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Unutmaz D; Jackson Laboratory for Genomic Medicine, Farmington, Conn.
  • Feske S; Department of Pathology, New York University School of Medicine, New York, NY. Electronic address: feskes01@nyumc.org.
J Allergy Clin Immunol ; 142(4): 1297-1310.e11, 2018 10.
Article en En | MEDLINE | ID: mdl-29155098
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Proteína ORAI1 / Síndromes de Inmunodeficiencia Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Allergy Clin Immunol Año: 2018 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Proteína ORAI1 / Síndromes de Inmunodeficiencia Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Allergy Clin Immunol Año: 2018 Tipo del documento: Article Pais de publicación: Estados Unidos