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 (1, 2) , Mathieu Paul Rodero (2) , Nadia Jeremiah (2) , Alexandre Belot (3, 4) , Eric Jeziorski (5) , Darragh Duffy (6) , Didier Bessis (7) , Guilhem Cros (1) , Gillian I. Rice (8) , Bruno Charbit (6) , Anne Hulin (9) , Nihel Khoudour (9) , Consuelo Modesto Caballero (10) , Christine Bodemer (2, 11) , Monique Fabre (11) , Laureline Berteloot (11) , Muriel Le Bourgeois (11) , Philippe Reix (12) , Thierry Walzer (3) , Despina Moshous (1, 2) , Stéphane Blanche (1, 2) , Alain Fischer (1, 2, 13) , Brigitte Bader-Meunier (1, 2) , Fréderic Rieux-Laucat (2) , Yanick Joseph Crow (2) , Bénédicte Neven (1, 2)

1 Département d'Immunologie, hématologie et rhumatologie pédiatriques [Hôpital Necker-Enfants malades - APHP]
2 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
3 Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases
4 Department of Nephrology-Rheumatology-Dermatology Pediatric, Bron
5 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
6 Immunobiologie des Cellules dendritiques
7 Département de dermatologie [CHU de Montpellier]
8 MCGM - Manchester Centre for Genomic Medicine [Manchester, UK]
9 CHU Henri Mondor [Créteil]
10 Vall d'Hebron University Hospital [Barcelona]
11 Hôpital Necker - Enfants Malades [AP-HP]
12 CRCM [Lyon] - Centre de Ressources et de Compétences en Mucoviscidose [Lyon]
13 Collège de France - Chaire Médecine expérimentale (A. Fischer)

Mots clés: Child; Preschool; Female; Humans; Janus Kinase 1; Janus Kinase 2; Male; Membrane Proteins; Mutation; Protein Kinase Inhibitors; Pyrazoles

Domaines: Immunologie; Bactériologie; Virologie

Marie-Louise Frémond, Mathieu Paul Rodero, Nadia Jeremiah, Alexandre Belot, Eric Jeziorski, et al.. Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children. Journal of Allergy and Clinical Immunology, 2016, 138 (6), pp.1752-1755. ⟨10.1016/j.jaci.2016.07.015⟩. ⟨hal-01911048⟩