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

Affiliations

• ¹ 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.
• ² Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.
• ³ Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmunity, Paris, France.
• ⁴ 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.
• ⁵ Pediatrics Department, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
• ⁶ INSERM U1223, Laboratory of Dendritic Cell Immunobiology, Institut Pasteur, Paris, France; Center for Translational Research, Institut Pasteur, Paris, France.
• ⁷ Dermatology Department, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
• ⁸ Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France.
• ⁹ 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.
• ¹⁰ INSERM U1223, Laboratory of Dendritic Cell Immunobiology, Institut Pasteur, Paris, France.
• ¹¹ Pharmacology and Toxicology Laboratory, Hôpital Universitaire Henri Mondor, Créteil, France.
• ¹² Pediatric Rheumatology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
• ¹³ Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; Department of Dermatology, Hôpital Necker-Enfants Malades, Paris, France.
• ¹⁴ Department of Pathology, Hôpital Necker-Enfants Malades, Paris, France.
• ¹⁵ Department of Pediatric Radiology, Hôpital Necker-Enfants Malades, Paris, France.
• ¹⁶ Department of Pediatric Pneumology, Hôpital Necker-Enfants Malades, Paris, France.
• ¹⁷ Pneumology Department, Centre de Référence de la Mucoviscidose, Hospices Civils de Lyon and Claude-Bernard Lyon 1 University, Lyon, France.
• ¹⁸ CIRI, Centre International de Recherche en Infectiologie, INSERM, U1111, CNRS UMR5308, Ecole Normale Supérieure de Lyon, Université Lyon 1, Lyon, France.
• ¹⁹ 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.
• ²⁰ Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, 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, Paris, France; Collège de France, Paris, France.
• ²² 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.
• ²³ 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.
• ²⁴ 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: [email protected].