Fulltext

International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients

Hofer, Michaël ; Pillet, Pascal ; Cochard, Marie-Madeleine ; Berg, Stefan ; Krol, Petra ; Kone-Paut, Isabelle ; Rigante, Donato ; Hentgen, Véronique ; Anton, Jordi ; Brik, Riva ; Neven, Bénédicte ; Touitou, Isabelle ; Kaiser, Daniela ; Duquesne, Agnès ; Wouters, Carine ; Gattorno, Marco

In: Rheumatology, 2014, vol. 53, no. 6, p. 1125-1129

Zum persönliche Liste hinzufügen
    Titel
    • International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients
    Autor
    • Hofer, Michaël. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Pillet, Pascal. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Cochard, Marie-Madeleine. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Berg, Stefan. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Krol, Petra. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Kone-Paut, Isabelle. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Rigante, Donato. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Hentgen, Véronique. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Anton, Jordi. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Brik, Riva. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Neven, Bénédicte. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Touitou, Isabelle. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Kaiser, Daniela. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Duquesne, Agnès. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Wouters, Carine. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    • Gattorno, Marco. Paediatric Rheumatology Unit of Western Switzerland, Department of Paediatrics, CHUV, University Hospital of Lausanne, Lausanne, Department of Paediatrics, HUG, Geneva, Switzerland, Paediatric Rheumatology, Department of Paediatrics, Hôpital Pellegrin, Bordeaux, France, Paediatric Rheumatology, University of Gothenburg, Gothenburg, Sweden, Paediatric Rheumatology, Department of Paediatrics and Adolescent Medicine, Charles University, Prague, Czech Republic, Paediatric Rheumatology, Department of Paediatrics, CEREMAI, CHU de Bicêtre, APHP, Paris SUD, Faculty of Medicine, Le Kremlin-Bicêtre, France, Paediatric Rheumatology, Department of Paediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy, CEREMAI (National Centre for Auto-Inflammatory Diseases), Department of Paediatrics, Hôpital Mignot, Versailles, France, Paediatric Rheumatology, Department of Paediatrics, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain, Paediatric Rheumatology, Meyer Children's Hospital of Haifa Rambam Medical Center, Faculty of Medicine, Technion Haifa, Israel, Paediatric Rheumatology, Hôpital Necker-Enfants Malades, Paris, France, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital A de Villeneuve, Montpellier, France, Paediatric Rheumatology, Kantonspital, Lucerne, Switzerland, Paediatric Rheumatology, Hôpital Femme-Mère-Enfant, Lyon, France, Paediatric Rheumatology, Department of Paediatrics, University Hospital Leuven, Leuven, Belgium and UO Pediatria 2, Rheumatology Unit, G. Gaslini Institute, Genoa, Italy.
    Dokumententyp
    • Postprint
    OAI-PMH-ID
    • oai:doc.rero.ch:303658
    Summary
    Objectives. The aims of this study were to describe the clinical features of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) and identify distinct phenotypes in a large cohort of patients from different countries. Methods. We established a web-based multicentre cohort through an international collaboration within the periodic fevers working party of the Pediatric Rheumatology European Society (PReS). The inclusion criterion was a diagnosis of PFAPA given by an experienced paediatric rheumatologist participating in an international working group on periodic fever syndromes. Results. Of the 301 patients included from the 15 centres, 271 had pharyngitis, 236 cervical adenitis, 171 oral aphthosis and 132 with all three clinical features. A total of 228 patients presented with additional symptoms (131 gastrointestinal symptoms, 86 arthralgias and/or myalgias, 36 skin rashes, 8 neurological symptoms). Thirty-one patients had disease onset after 5 years and they reported more additional symptoms. A positive family history for recurrent fever or recurrent tonsillitis was found in 81 patients (26.9%). Genetic testing for monogenic periodic fever syndromes was performed on 111 patients, who reported fewer occurrences of oral aphthosis or additional symptoms. Twenty-four patients reported symptoms (oral aphthosis and malaise) outside the flares. The CRP was >50 mg/l in the majority (131/190) of the patients tested during the fever. Conclusion. We describe the largest cohort of PFAPA patients presented so far. We confirm that PFAPA may present with varied clinical manifestations and we show the limitations of the commonly used diagnostic criteria. Based on detailed analysis of this cohort, a consensus definition of PFAPA with better-defined criteria should be proposed