- Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide surveyLinda Rossi-Semerano
Department of Paediatric Rheumatology, Hopital de Bicetre, APHP, National Reference Centre for Auto Inflammatory Diseases, Le Kremlin Bicetre, University of Paris Sud, CHU de Bicêtre 78 Rue du Général Leclerc, 94270, Le Kremlin, Bicetre, France
Orphanet J Rare Dis 10:19. 2015..We aimed to estimate the off-label use of anti-IL-1 treatments in France, assess their efficacy in rare diseases, and increase the reporting of their possible side effects...
- The expanding spectrum of rare monogenic autoinflammatory diseasesIsabelle Touitou
Laboratoire de génétique des maladies rares et auto inflammatoires, CHRU de Montpellier, Montpellier, France
Orphanet J Rare Dis 8:162. 2013..We believe that this update will assist physicians in correctly naming their patient's illness. This is an essential step for the effective and targeted management of an orphan disease. ..
- Is Still's Disease an Autoinflammatory Syndrome?Linda Rossi-Semerano
Department of Paediatrics and Paediatric Rheumatology, Bicetre Hospital, National Reference Centre for Autoinflammatory Diseases, 78 rue du General Leclerc, Le Kremlin Bicetre, 94270 Paris, France
Int J Inflam 2012:480373. 2012..The new insights on the pathogenesis of sJIA have therefore dramatically changed the approach to treatment, with the development of targeted treatments (anti-IL-1 and anti-IL-6 agents) more effective and safer than earlier medications...
- First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinraLinda Rossi-Semerano
Department of Pediatrics and Pediatric Rheumatology, National Reference Centre for Auto Inflammatory Diseases, University of Paris Sud, APHP, Hopital de Bicetre, 78, rue du Général Leclerc 94275 Le Kremlin Bicêtre cedex, France
Pediatrics 132:e1043-7. 2013..We report herein the first exhaustive clinical description of an infant with DITRA who was successfully treated with anakinra. ..
- The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patientsJerome Stirnemann
INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance Publique Hopitaux de Paris AP HP, Paris, France
Orphanet J Rare Dis 7:77. 2012..Clinical features, complications and treatments of Gaucher's disease (GD), a rare autosomal-recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described...
- Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiencyCaroline Galeotti
Department of Pediatrics and Pediatric Rheumatology, National Referral Centre of Auto inflammatory Diseases, CEREMAI, CHU Bicetre, Assistance Publique Hopitaux de Paris, University of Paris Sud, Le Kremlin Bicetre, France
Rheumatology (Oxford) 51:1855-9. 2012..To describe the efficacy and safety of IL-1-targeting drugs, anakinra and canakinumab, in patients with mevalonate kinase deficiency (MKD)...