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Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.
Van Nieuwenhove, Erika; Barber, John S; Neumann, Julika; Smeets, Elien; Willemsen, Mathijs; Pasciuto, Emanuela; Prezzemolo, Teresa; Lagou, Vasiliki; Seldeslachts, Laura; Malengier-Devlies, Bert; Metzemaekers, Mieke; Haßdenteufel, Sarah; Kerstens, Axelle; van der Kant, Rob; Rousseau, Frederic; Schymkowitz, Joost; Di Marino, Daniele; Lang, Sven; Zimmermann, Richard; Schlenner, Susan; Munck, Sebastian; Proost, Paul; Matthys, Patrick; Devalck, Christine; Boeckx, Nancy; Claessens, Frank; Wouters, Carine; Humblet-Baron, Stephanie; Meyts, Isabelle; Liston, Adrian.
Afiliación
  • Van Nieuwenhove E; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
  • Barber JS; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium.
  • Neumann J; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium.
  • Smeets E; Department of Cellular and Molecular Medicine, Laboratory of Molecular Endocrinology, KU Leuven, Leuven, Belgium.
  • Willemsen M; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium.
  • Pasciuto E; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium.
  • Prezzemolo T; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium.
  • Lagou V; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium.
  • Seldeslachts L; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium.
  • Malengier-Devlies B; Department of Microbiology and Immunology, Laboratory of Immunobiology, Rega Institute for Medical Research, KU Leuven, Leuven, Belgium.
  • Metzemaekers M; Department of Microbiology and Immunology, Laboratory of Molecular Immunology, Rega Institute for Medical Research, KU Leuven, Leuven, Belgium.
  • Haßdenteufel S; Department of Medical Biochemistry and Molecular Biology, Saarland University, Homburg, Germany.
  • Kerstens A; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium; VIB Bio Imaging Core & Department for Neuroscience, KU Leuven, Leuven, Belgium.
  • van der Kant R; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium; Department of Cellular and Molecular Medicine, Switch Laboratory, KU Leuven, Leuven, Belgium.
  • Rousseau F; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium; Department of Cellular and Molecular Medicine, Switch Laboratory, KU Leuven, Leuven, Belgium.
  • Schymkowitz J; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium; Department of Cellular and Molecular Medicine, Switch Laboratory, KU Leuven, Leuven, Belgium.
  • Di Marino D; Department of Life and Environmental Sciences, New York-Marche Structural Biology Center, Polytechnic University of Marche, Ancona, Italy.
  • Lang S; Department of Medical Biochemistry and Molecular Biology, Saarland University, Homburg, Germany.
  • Zimmermann R; Department of Medical Biochemistry and Molecular Biology, Saarland University, Homburg, Germany.
  • Schlenner S; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium.
  • Munck S; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium; VIB Bio Imaging Core & Department for Neuroscience, KU Leuven, Leuven, Belgium.
  • Proost P; Department of Microbiology and Immunology, Laboratory of Molecular Immunology, Rega Institute for Medical Research, KU Leuven, Leuven, Belgium.
  • Matthys P; Department of Microbiology and Immunology, Laboratory of Immunobiology, Rega Institute for Medical Research, KU Leuven, Leuven, Belgium.
  • Devalck C; Department of Hemato-Oncology, Hôpital Universitaire Des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
  • Boeckx N; Department of Oncology, KU Leuven, Leuven, Belgium; Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium.
  • Claessens F; Department of Cellular and Molecular Medicine, Laboratory of Molecular Endocrinology, KU Leuven, Leuven, Belgium.
  • Wouters C; Department of Microbiology and Immunology, Immunobiology, KU Leuven, Leuven, Belgium; Department of Pediatrics, Division of Pediatric Rheumatology, University Hospitals Leuven, Leuven, Belgium; ERN-RITA Executive Board, Leuven, Belgium.
  • Humblet-Baron S; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium.
  • Meyts I; Department of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium; Department of Pediatrics, Division of Primary Immunodeficiencies, University Hospitals Leuven, Leuven, Belgium; ERN-RITA Core Center, Leuven, Belgium. Electronic address:
  • Liston A; Department of Microbiology and Immunology, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium; Laboratory of Lymphocyte Signalling and Development, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingd
J Allergy Clin Immunol ; 146(5): 1180-1193, 2020 11.
Article en En | MEDLINE | ID: mdl-32325141
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Canales de Translocación SEC / Síndromes Congénitos de Insuficiencia de la Médula Ósea / Mutación / Neutropenia / Neutrófilos Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: J Allergy Clin Immunol Año: 2020 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Canales de Translocación SEC / Síndromes Congénitos de Insuficiencia de la Médula Ósea / Mutación / Neutropenia / Neutrófilos Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: J Allergy Clin Immunol Año: 2020 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Estados Unidos