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Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children.

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作者单位: Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France. [1] Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France. [2] Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmunity, Paris, France. [3] Pediatric Rheumatology, Nephrology and Dermatology Department, Hospices Civils de Lyon, Lyon, France; CIRI, Centre International de Recherche en Infectiologie, INSERM, U1111, CNRS UMR5308, Ecole Normale Supérieure de Lyon, Université Lyon 1, Lyon, France. [4] Pediatrics Department, Centre Hospitalier Universitaire de Montpellier, Montpellier, France. [5] INSERM U1223, Laboratory of Dendritic Cell Immunobiology, Institut Pasteur, Paris, France; Center for Translational Research, Institut Pasteur, Paris, France. [6] Dermatology Department, Centre Hospitalier Universitaire de Montpellier, Montpellier, France. [7] Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France. [8] Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, United Kingdom. [9] INSERM U1223, Laboratory of Dendritic Cell Immunobiology, Institut Pasteur, Paris, France. [10] Pharmacology and Toxicology Laboratory, Hôpital Universitaire Henri Mondor, Créteil, France. [11] Pediatric Rheumatology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain. [12] Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; Department of Dermatology, Hôpital Necker-Enfants Malades, Paris, France. [13] Department of Pathology, Hôpital Necker-Enfants Malades, Paris, France. [14] Department of Pediatric Radiology, Hôpital Necker-Enfants Malades, Paris, France. [15] Department of Pediatric Pneumology, Hôpital Necker-Enfants Malades, Paris, France. [16] Pneumology Department, Centre de Référence de la Mucoviscidose, Hospices Civils de Lyon and Claude-Bernard Lyon 1 University, Lyon, France. [17] CIRI, Centre International de Recherche en Infectiologie, INSERM, U1111, CNRS UMR5308, Ecole Normale Supérieure de Lyon, Université Lyon 1, Lyon, France. [18] Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Paris, France. [19] Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France. [20] Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Paris, France; Collège de France, Paris, France. [21] Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmunity, Paris, France. [22] Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, United Kingdom. [23] Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmunity, Paris, France. Electronic address: benedicte.neven@aphp.fr. [24]
DOI 10.1016/j.jaci.2016.07.015
PMID 27554814
发布时间 2022-04-09
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