title: Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children.
authors.affiliation: 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.
authors.forename: Marie-Louise
authors.initials: ML
authors.lastname: Frémond
authors.affiliation: Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.
authors.forename: Mathieu Paul
authors.initials: MP
authors.lastname: Rodero
authors.affiliation: Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmunity, Paris, France.
authors.forename: Nadia
authors.initials: N
authors.lastname: Jeremiah
authors.affiliation: 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.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Belot
authors.affiliation: Pediatrics Department, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Jeziorski
authors.affiliation: INSERM U1223, Laboratory of Dendritic Cell Immunobiology, Institut Pasteur, Paris, France; Center for Translational Research, Institut Pasteur, Paris, France.
authors.forename: Darragh
authors.initials: D
authors.lastname: Duffy
authors.affiliation: Dermatology Department, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
authors.forename: Didier
authors.initials: D
authors.lastname: Bessis
authors.affiliation: Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Guilhem
authors.initials: G
authors.lastname: Cros
authors.affiliation: 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.
authors.forename: Gillian I
authors.initials: GI
authors.lastname: Rice
authors.affiliation: INSERM U1223, Laboratory of Dendritic Cell Immunobiology, Institut Pasteur, Paris, France.
authors.forename: Bruno
authors.initials: B
authors.lastname: Charbit
authors.affiliation: Pharmacology and Toxicology Laboratory, Hôpital Universitaire Henri Mondor, Créteil, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Hulin
authors.affiliation: Pharmacology and Toxicology Laboratory, Hôpital Universitaire Henri Mondor, Créteil, France.
authors.forename: Nihel
authors.initials: N
authors.lastname: Khoudour
authors.affiliation: Pediatric Rheumatology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
authors.forename: Consuelo Modesto
authors.initials: CM
authors.lastname: Caballero
authors.affiliation: Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; Department of Dermatology, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Bodemer
authors.affiliation: Department of Pathology, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Monique
authors.initials: M
authors.lastname: Fabre
authors.affiliation: Department of Pediatric Radiology, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Laureline
authors.initials: L
authors.lastname: Berteloot
authors.affiliation: Department of Pediatric Pneumology, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Muriel
authors.initials: M
authors.lastname: Le Bourgeois
authors.affiliation: Pneumology Department, Centre de Référence de la Mucoviscidose, Hospices Civils de Lyon and Claude-Bernard Lyon 1 University, Lyon, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Reix
authors.affiliation: CIRI, Centre International de Recherche en Infectiologie, INSERM, U1111, CNRS UMR5308, Ecole Normale Supérieure de Lyon, Université Lyon 1, Lyon, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Walzer
authors.affiliation: 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.
authors.forename: Despina
authors.initials: D
authors.lastname: Moshous
authors.affiliation: Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Blanche
authors.affiliation: 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.
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.affiliation: 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.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Bader-Meunier
authors.affiliation: Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; INSERM UMR 1163, Laboratory of Immunogenetics of Pediatric Autoimmunity, Paris, France.
authors.forename: Fréderic
authors.initials: F
authors.lastname: Rieux-Laucat
authors.affiliation: 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.
authors.forename: Yanick Joseph
authors.initials: YJ
authors.lastname: Crow
authors.affiliation: 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.
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Neven
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D053613:Janus Kinase 1 / Q000037:antagonists & inhibitors* / Q000235:genetics; D053614:Janus Kinase 2 / Q000037:antagonists & inhibitors* / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009570:Nitriles; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use*; D011720:Pyrazoles / Q000627:therapeutic use*; D011743:Pyrimidines; D000099197:STING Protein
chemical_list: D053613:Janus Kinase 1; D053614:Janus Kinase 2; D008565:Membrane Proteins; D009570:Nitriles; D047428:Protein Kinase Inhibitors; D011720:Pyrazoles; D011743:Pyrimidines; C532857:STING1 protein, human; D000099197:STING Protein; C540383:ruxolitinib; C507904:JAK1 protein, human; C507924:JAK2 protein, human