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

Marie-Louise Frémond¹, Mathieu Paul Rodero², Nadia Jeremiah³, Alexandre Belot⁴, Eric Jeziorski⁵, Darragh Duffy⁶, Didier Bessis⁷, Guilhem Cros⁸, Gillian I Rice⁹, Bruno Charbit¹⁰, Anne Hulin¹¹, Nihel Khoudour¹¹, Consuelo Modesto Caballero¹², Christine Bodemer¹³, Monique Fabre¹⁴, Laureline Berteloot¹⁵, Muriel Le Bourgeois¹⁶, Philippe Reix¹⁷, Thierry Walzer¹⁸, Despina Moshous¹⁹, Stéphane Blanche²⁰, Alain Fischer²¹, Brigitte Bader-Meunier²², Fréderic Rieux-Laucat³, Yanick Joseph Crow²³, Bénédicte Neven²⁴

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: benedicte.neven@aphp.fr.

PMID: 27554814
DOI: 10.1016/j.jaci.2016.07.015

Free article

Case Reports

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

Marie-Louise Frémond et al. J Allergy Clin Immunol. 2016 Dec.

Free article

. 2016 Dec;138(6):1752-1755.

doi: 10.1016/j.jaci.2016.07.015. Epub 2016 Aug 20.

Authors

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: benedicte.neven@aphp.fr.

PMID: 27554814
DOI: 10.1016/j.jaci.2016.07.015

No abstract available

PubMed Disclaimer

Publication types

Actions
Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
Other Literature Sources
- The Lens - Patent Citations Database
- scite Smart Citations
Research Materials
- NCI CPTC Antibody Characterization Program
Miscellaneous
- NCI CPTAC Assay Portal

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

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

Affiliations

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

Authors

Affiliations

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Research Materials

Miscellaneous