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52. Perception des relations entre les jeunes patients et les médecins lors de la transition de la pédiatrie à la médecine adulte : résultat d’une enquête réalisée auprès de 100 médecins et 104 jeunes

Author

Herasse, M., primary, Romier, M., additional, Hentgen, V., additional, Duquesne, A., additional, Larbre, J.P., additional, Maillard, H., additional, Pha, M., additional, Pillet, P., additional, Reumaux, H., additional, Truchetet, M.E., additional, Belot, A., additional, and Georgin-Lavialle, S., additional

Published
2020
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53. Lyme borreliosis and other tick-borne diseases. Guidelines from the French scientific societies

Author

Gocko, X. (X), Lenormand, C. (C), Lemogne, C. (C), Bouiller, K. (K), Gehanno, J.-F., Rabaud, C. (C), Perrot, S. (S), Eldin, C. (C), de Broucker, T. (T), Roblot, F. (F), Toubiana, J. (J), Sellal, F. (Francois), Vuillemet, F. (F), Sordet, C. (Christelle), Fantin, B. (B), Lina, G. (G), Sobas, C. (C), Jaulhac, B. (Benoit), Figoni, J. (J), Chirouze, C. (C), Hansmann, Y. (Yves), Hentgen, V. (V), Caumes, E. (E), Dieudonné, M. (M), Picone, O. (O), Bodaghi, B. (B), Gangneux, J.-P., Degeilh, B. (B), Partouche, H. (H), Saunier, A. (A), Sotto, A. (A), Raffetin, A. (A), Monsuez, J.-J., Michel, C. (C), Boulanger, N. (Nathalie), Cathebras, P. (P), Tattevin, P. (P), societies, e. (endorsed) b. (by) t. (the) f. (following) s. (scientific), Université de Strasbourg (UNISTRA), Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm - Paris Descartes), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Service de santé au travail et pathologie professionnelle [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), Université Paris 13 (UP13)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Pharmacologie des anti-infectieux (PHAR), Université de Poitiers-Institut National de la Santé et de la Recherche Médicale (INSERM), Infection, Anti-microbiens, Modélisation, Evolution (IAME (UMR_S_1137 / U1137)), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service des maladies infectieuses et tropicales [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Max Weber (CMW), Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Lumière - Lyon 2 (UL2)-Université Jean Monnet [Saint-Étienne] (UJM), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service des maladies infectieuses et réanimation médicale [Rennes] = Infectious Disease and Intensive Care [Rennes], CHU Pontchaillou [Rennes], Laboratoire Chrono-environnement - UFC (UMR 6249) (LCE), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre National de la Recherche Scientifique (CNRS)-Université Jean Monnet [Saint-Étienne] (UJM)-Université Lumière - Lyon 2 (UL2)-École normale supérieure - Lyon (ENS Lyon), Service des maladies infectieuses et réanimation médicale, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou, Laboratoire Chrono-environnement (UMR 6249) (LCE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), École normale supérieure de Lyon (ENS de Lyon)-Université Lumière - Lyon 2 (UL2)-Université Jean Monnet - Saint-Étienne (UJM)-Centre National de la Recherche Scientifique (CNRS), and Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Subjects
Societies, Scientific, Insecticides, [SDV]Life Sciences [q-bio], Aucun, MEDLINE, 03 medical and health sciences, 0302 clinical medicine, Environmental health, medicine, Animals, Humans, 030212 general & internal medicine, ComputingMilieux_MISCELLANEOUS, Tick-borne disease, Lyme Disease, Vaccines, Lyme borreliosis, business.industry, Sciences du Vivant [q-bio]/Microbiologie et Parasitologie, medicine.disease, 3. Good health, Primary Prevention, Infectious Diseases, Tick-Borne Diseases, France, Nervous System Diseases, business, 030217 neurology & neurosurgery
Abstract

International audience

Published
2019
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54. Borréliose de Lyme et autres maladies vectorielles à tiques. Recommandations des sociétés savantes françaises (Argumentaire I) : prévention, épidémiologie, circonstances du diagnostic

Author

Figoni, J, Chirouze, C, Hansmann, Y, Lemogne, C, Hentgen, V, Saunier, A, Bouiller, K, Gehanno, J F, Rabaud, C, Perrot, S, Caumes, E, Eldin, C, de Broucker, T, Jaulhac, B, Roblot, F, Toubiana, J, Sellal, F, Vuillemet, F, Sordet, C, Fantin, B, Lina, G, Gocko, X, Dieudonné, M, Picone, O., Bodaghi, B, Gangneux, Jean-Pierre, Degeilh, B, Partouche, H, Lenormand, C, Sotto, A, Raffetin, A, Monsuez, J J, Michel, C, Boulanger, N, Cathebras, P, Tattevin, P, Santé publique France - French National Public Health Agency [Saint-Maurice, France], Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Université Paris-Est Marne-la-Vallée (UPEM), Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm - Paris Descartes), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de santé au travail et pathologie professionnelle [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), Université Paris 13 (UP13)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service des maladies infectieuses et tropicales [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Pharmacologie des anti-infectieux (PHAR), Université de Poitiers-Institut National de la Santé et de la Recherche Médicale (INSERM), Hospices Civils de Lyon, Departement de Neurologie (HCL), Infection, Anti-microbiens, Modélisation, Evolution (IAME (UMR_S_1137 / U1137)), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Max Weber (CMW), Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Lumière - Lyon 2 (UL2)-Université Jean Monnet [Saint-Étienne] (UJM), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), École des Hautes Études en Santé Publique [EHESP] (EHESP), Université de Strasbourg (UNISTRA), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), CHU Pontchaillou [Rennes], Service de Maladies Infectieuses et Tropicales [CHU Pitié-Salpêtrière], École normale supérieure - Lyon (ENS Lyon)-Université Lumière - Lyon 2 (UL2)-Université Jean Monnet [Saint-Étienne] (UJM)-Centre National de la Recherche Scientifique (CNRS), Santé publique France, Laboratoire Chrono-environnement - UFC (UMR 6249) (LCE), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC), Centre National de la Recherche Scientifique (CNRS)-Université Jean Monnet [Saint-Étienne] (UJM)-Université Lumière - Lyon 2 (UL2)-École normale supérieure - Lyon (ENS Lyon), Laboratoire Chrono-environnement (UMR 6249) (LCE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), École normale supérieure de Lyon (ENS de Lyon)-Université Lumière - Lyon 2 (UL2)-Université Jean Monnet - Saint-Étienne (UJM)-Centre National de la Recherche Scientifique (CNRS), and Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Subjects
Prévention, Erythema migrans, Neuroborreliosis, Arthritis, [SDV]Life Sciences [q-bio], Borréliose de Lyme, Ticks, Arthrite, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Érythème migrant, France, Tiques, ComputingMilieux_MISCELLANEOUS, Neuroborréliose, Lyme borreliosis
Abstract

International audience

Published
2019
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55. MEFV gene analysis in PFAPA

Author

Cazeneuve, C écile, Genevi ève, David, Amselem, Serge, Hentgen, V éronique, Hau, Isabelle, and Reinert, Philippe

Published
2003

58. Lyme borreliosis and other tick-borne diseases. Guidelines from the French Scientific Societies (I): prevention, epidemiology, diagnosis: prevention, epidemiology, diagnosis

Author

Figoni, J. (J), Chirouze, C. (C), Hansmann, Y. (Yves), Lemogne, C. (C), Hentgen, V. (V), Saunier, A. (A), Bouiller, K. (K), Gehanno, J. (J) F. (F), Rabaud, C. (C), Perrot, S. (S), Caumes, E. (E), Eldin, C. (C), de Broucker, T. (T), Jaulhac, B. (Benoit), Roblot, F. (F), Toubiana, J. (J), Sellal, F. (Francois), Vuillemet, F. (F), Sordet, C. (Christelle), Fantin, B. (B), Lina, G. (G), Gocko, X. (X), Dieudonné, M. (M), Picone, O. (O), Bodaghi, B. (B), Gangneux, J. (J) P. (P), Degeilh, B. (B), Partouche, H. (H), Lenormand, C. (Cedric), Sotto, A. (A), Raffetin, A. (A), Monsuez, J. (J) J. (J), Michel, C. (C), Boulanger, N. (Nathalie), Cathebras, P. (P), and Tattevin, P. (P)

Subjects
Aucun, Sciences du Vivant [q-bio]/Microbiologie et Parasitologie
Abstract

Lyme borreliosis is transmitted en France by the tick Ixodes ricinus, endemic in metropolitan France. In the absence of vaccine licensed for use in humans, primary prevention mostly relies on mechanical protection (clothes covering most parts of the body) that may be completed by chemical protection (repulsives). Secondary prevention relies on early detection of ticks after exposure, and mechanical extraction. There is currently no situation in France when prophylactic antibiotics would be recommended. The incidence of Lyme borreliosis in France, estimated through a network of general practitioners (réseau Sentinelles), and nationwide coding system for hospital stays, has not significantly changed between 2009 and 2017, with a mean incidence estimated at 53 cases/100,000 inhabitants/year, leading to 1.3 hospital admission/100,000 inhabitants/year. Other tick-borne diseases are much more seldom in France: tick-borne encephalitis (around 20 cases/year), spotted-fever rickettsiosis (primarily mediterranean spotted fever, around 10 cases/year), tularemia (50–100 cases/year, of which 20% are transmitted by ticks), human granulocytic anaplasmosis (< 10 cases/year), and babesiosis (< 5 cases/year). The main circumstances of diagnosis for Lyme borreliosis are cutaneous manifestations (primarily erythema migrans, much more rarely borrelial lymphocytoma and atrophic chronic acrodermatitis), neurological (< 15% of cases, mostly meningoradiculitis and cranial nerve palsy, especially facial nerve) and rheumatologic (mostly knee monoarthritis, with recurrences). Cardiac and ophtalmologic manifestations are very rarely encountered.

Published
2019

59. The European network for care of children with paediatric rheumatic diseases: care across borders

Author

Dolezalova P, Anton-Lopez J, Avcin T, Beresford MW, Brogan PA, Constantin T, Egert Y, Foeldvari I, Foster HE, Hentgen V, Kone-Paut I, Kuemmerle-Deschner JB, Lahdenne P, Magnusson B, Martini A, McCann L, Minden K, Ozen S, Schoemaker C, Quartier P, Ravelli A, Rumba-Rozenfelde I, Ruperto N, Vastert S, Wouters C, Zulian F, Wulffraat NM, and SHARE Consortium and the Paediatric Rheumatology International Trials Organisati

Subjects
standards of care, paediatric rheumatology, service provision
Abstract

OBJECTIVES: To provide an overview of the paediatric rheumatology (PR) services in Europe, describe current delivery of care and training, set standards for care, identify unmet needs and inform future specialist service provision. METHODS: An online survey was developed and presented to national coordinating centres of the Paediatric Rheumatology International Trials Organisation (PRINTO) (country survey) and to individual PR centres (centre and disease surveys) as a part of the European Union (EU) Single Hub and Access point for paediatric Rheumatology in Europe project. The survey contained components covering the organization of PR care, composition of teams, education, health care and research facilities and assessment of needs. RESULTS: Response rates were 29/35 (83%) for country surveys and 164/288 (57%) for centre surveys. Across the EU, approximately one paediatric rheumatologist is available per million population. In all EU member states there is good access to specialist care and medications, although biologic drug availability is worse in Eastern European countries. PR education is widely available for physicians but is insufficient for allied health professionals. The ability to participate in clinical trials is generally high. Important gaps were identified, including lack of standardized clinical guidelines/recommendations and insufficient adolescent transition management planning. CONCLUSION: This study provides a comprehensive description of current specialist PR service provision across Europe and did not reveal any major differences between EU member states. Rarity, chronicity and complexity of diseases are major challenges to PR care. Future work should facilitate the development, dissemination and implementation of standards of care, treatment and service recommendations to further improve patient-centred health care across Europe.

Published
2019

60. NLRC4~associated autoinflammatory diseases: A systematic review of the current literature

Author

Rodrigues, F., Hentgen, V., Bachmeyer, C., Kone-Paut, I., Belot, Alexandre, Grateau, G., Sarrabay, G., Georgin-Lavialle, S., CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence des Maladies AutoInflammatoires (CeRéMAI), Centre Hospitalier de Versailles André Mignot (CHV), Service de Pédiatrie Générale et Rhumatologie Pédiatrique, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases, Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de néphrologie, rhumatologie et dermatologie pédiatriques [Hôpital Femme Mère Enfant, HCL], Hospices Civils de Lyon (HCL)-Hôpital Mère Enfant, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre International de Recherche en Infectiologie - UMR (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)

Subjects
Inflammation, Male, Macrophagic activation syndrome, NLRC4, Calcium-Binding Proteins, Hereditary Autoinflammatory Diseases, Syndrome d\textquoterightactivation macrophagique, Urticaire au froid, Maladie inflammatoire chronique de l\textquoterightintestin, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, Inflammatory bowel disease, CARD Signaling Adaptor Proteins, Auto-inflammation, Phenotype, Familial cold urticaria, Mutation, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Autoinflammation, Humans, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Genetic Predisposition to Disease
Abstract

International audience; The auto-inflammatory diseases linked to NLRC4~mutations are recently described entities. Transmission is autosomal dominant in 80~% of cases; cases of somatic mutation have already been reported. The disease may display two very different clinical phenotypes: the phenotype 1 (30~%), severe, is dominated by a multisystemic inflammation starting in the first year of life with symptoms of chronic inflammatory bowel disease (IBD), macrophagic actication syndrome (MAS), or even a presentation suggesting a cryopyrinopathy in its CINCA form; the mortality of this phenotype is high (25~%). The phenotype 2 (70~%), mild, usually starts after the age of 3~and is characterized by cold urticaria, arthralgia, ocular features and fever in 50~% of cases without visceral failure. Anti-interleukin-1~inhibitors are effective in most cases (83~%). Interleukin-18 (IL-18) levels are very high in both clinical forms. Interleukin-18~inhibitors and anti-interferon-gamma inhibitors were remarkably effective in two very severe phenotype 1~patients. Thus, NLRC4~mutations can induce various clinical manifestations with two distinct phenotypes. Although still rare, because very recently described, this group of diseases could be evoked by an internist in front of cold familial urticarial; probably more and more cases will be diagnosed thanks to the major progresses of genetic diagnostic tools such as next generation sequencing.

Published
2018
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61. Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art

Author

Georgin-Lavialle, S., Kone-Paut, I., Delaleu, J., Sarrabay, G., Grateau, G., Touitou, I., Hentgen, V., CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hôpital Bicêtre, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), and Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)

Subjects
Fever, Interleukin1, Inflammasomes, Interleukine 1, TNFRSF1A, [SDV]Life Sciences [q-bio], Hereditary Autoinflammatory Diseases, Syndrome auto-inflammatoire, TRAPS, Inflammasome, Biological Factors, TRAPS syndrome, Receptors, Tumor Necrosis Factor, Type I, Mutation, Autoinflammatory syndrome, Humans, Glucocorticoids, TNFRFS1A, Interleukin-1
Abstract

International audience; Tumour necrosis receptor associated periodic syndrome (TRAPS) is a rare cosmopolitan dominant autosomal disease that belongs to the group of recurrent autoinflammatory syndromes. TRAPS is characterized by recurrent bouts of fever lasting more than 7 days, with arthralgia, myalgia, abdominal pain, erythematous rash and sometimes ocular symptoms. During flares, raised inflammatory markers are constant. The age of onset may occur during childhood but also during adulthood. TRAPS is caused by mutations in the TNF receptor 1 (TNFRSF1A) gene that may occur in most of the populations over the world. In the majority of patients, history shows affected relatives, even if sporadic cases do exist. Management of TRAPS usually involves corticosteroid therapy during inflammatory flares. The most severe cases require a treatment with biological agents (mainly interleukin 1 inhibitors). The prognosis of TRAPS is overall good; the main risk is represented by the development of secondary inflammatory amyloidosis. This risk is greatest in patients with structural mutations leading to conformation abnormalities of the TNFRSF1A receptor. Regular clinical and biological monitoring is essential in the follow-up of TRAPS patients.; Le syndrome périodique associé au récepteur du facteur de nécrose tumorale (TRAPS) est une maladie autosomique dominante cosmopolite « ultra » rare qui appartient au groupe des fièvres récurrentes auto-inflammatoires interleukine 1 dépendantes. Le TRAPS se caractérise par des accès récurrents de fièvre d’une durée classique de plus de 7 jours, d’arthromyalgies, de douleurs abdominales, d’éruptions cutanées et parfois de signes oculaires. Il existe toujours un syndrome inflammatoire biologique en poussée. L’âge de début des signes cliniques peut se situer au cours de l’enfance comme à l’âge adulte. Le TRAPS est causé par des mutations du gène codant le récepteur 1 du TNF (TNFRSF1A). Ces mutations ont été décrites de manière ubiquitaire et dans la majorité des cas il s’agit de cas familiaux. La prise en charge du TRAPS est le plus souvent symptomatique par corticoïdes au cours des accès inflammatoires. Seules les cas les plus sévères nécessitent une prise en charge par biothérapie (dont en premier lieu les inhibiteurs de l’interleukine 1). Le pronostic du TRAPS est généralement bon, le risque principal étant l’apparition d’une amylose inflammatoire secondaire. Ce risque est majeur chez les patients qui ont des mutations structurelles entraînant une anomalie de conformation du récepteur TNFRSF1A et une évolution inflammatoire chronique. Une surveillance clinique et biologique régulière est indispensable dans le suivi d’un patient atteint de TRAPS.

Published
2018
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62. Clinical overview of auto-inflammatory diseases

Author

Georgin-Lavialle, S., Rodrigues, F., Hentgen, V., Fayand, A., Quartier, P., Bader-Meunier, B., Bachmeyer, C., Savey, L., Louvrier, C., Sarrabay, G., Melki, I., Belot, Alexandre, Koné-Paut, I., Grateau, G., CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier de Versailles André Mignot (CHV), Département d'Immunologie, hématologie et rhumatologie pédiatriques [Hôpital Necker-Enfants malades - APHP], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases, Centre International de Recherche en Infectiologie - UMR (CIRI), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de néphrologie, rhumatologie et dermatologie pédiatriques, Hospices Civils de Lyon (HCL)-Hôpital Mère Enfant, Service de Pédiatrie Générale et Rhumatologie Pédiatrique, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Médecine interne, Université Pierre et Marie Curie - Paris 6 (UPMC), Physiopathologie des maladies génétiques d'expression pédiatrique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre Hospitalier de Versailles (CHV), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes), and Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre

Subjects
Inflammation, Hereditary Autoinflammatory Diseases, Maladies auto-inflammatoires, Auto-inflammatory diseases, Maladies médiées par les interférons, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, Immunity, Innate, Maladies médiées par l\textquoterightinterleukine-1, Diagnosis, Differential, Fièvres récurrentes monogéniques, Monogenic recurrent fevers, Interferon-mediated disease, Mutation, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Interleukin-1 mediated-disease, Humans, [SDV.IMM]Life Sciences [q-bio]/Immunology, Genetic Predisposition to Disease
Abstract

International audience; Monogenic auto-inflammatory diseases are characterized by genetic abnormalities coding for proteins involved in innate immunity. They were initially described in mirror with auto-immune diseases because of the absence of circulating autoantibodies. Their main feature is the presence of peripheral blood inflammation in crisis without infection. The best-known auto-inflammatory diseases are mediated by interleukines that consisted in the 4~following diseases familial Mediterranean fever, cryopyrinopathies, TNFRSF1A-related intermittent fever, and mevalonate kinase deficiency. Since 10~years, many other diseases have been discovered, especially thanks to the progress in genetics. In this review, we propose the actual panorama of the main known auto-inflammatory diseases. Some of them are recurrent fevers with crisis and remission; some others evaluate more chronically; some are associated with immunodeficiency. From a physiopathological point of view, we can separate diseases mediated by interleukine-1 and diseases mediated by interferon. Then some polygenic inflammatory diseases will be shortly described: Still disease, Schnitzler syndrome, aseptic abscesses syndrome. The diagnosis of auto-inflammatory disease is largely based on anamnesis, the presence of peripheral inflammation during attacks and genetic analysis, which are more and more performant.

Published
2018
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63. Erratum à « Borréliose de Lyme et autres maladies vectorielles à tiques. Recommandations des sociétés savantes françaises » [Med. Mal. Infect. 49 (2019) 296–317]

Author

Gocko, X., primary, Lenormand, C., additional, Lemogne, C., additional, Bouiller, K., additional, Gehanno, J.-F., additional, Rabaud, C., additional, Perrot, S., additional, Eldin, C., additional, de Broucker, T., additional, Roblot, F., additional, Toubiana, J., additional, Sellal, F., additional, Vuillemet, F., additional, Sordet, C., additional, Fantin, B., additional, Lina, G., additional, Sobas, C., additional, Jaulhac, B., additional, Figoni, J., additional, Chirouze, C., additional, Hansmann, Y., additional, Hentgen, V., additional, Caumes, E., additional, Dieudonné, M., additional, Picone, O., additional, Bodaghi, B., additional, Gangneux, J.-P., additional, Degeilh, B., additional, Partouche, H., additional, Saunier, A., additional, Sotto, A., additional, Raffetin, A., additional, Monsuez, J.-J., additional, Michel, C., additional, Boulanger, N., additional, Cathebras, P., additional, and Tattevin, P., additional

Published
2019
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64. Lyme borreliosis and other tick-borne diseases. Guidelines from the French scientific societies (II). Biological diagnosis, treatment, persistent symptoms after documented or suspected Lyme borreliosis

Author

Jaulhac, B., primary, Saunier, A., additional, Caumes, E., additional, Bouiller, K., additional, Gehanno, J.F., additional, Rabaud, C., additional, Perrot, S., additional, Eldin, C., additional, de Broucker, T., additional, Roblot, F., additional, Toubiana, J., additional, Sellal, F., additional, Vuillemet, F., additional, Sordet, C., additional, Fantin, B., additional, Lina, G., additional, Sobas, C., additional, Gocko, X., additional, Figoni, J., additional, Chirouze, C., additional, Hansmann, Y., additional, Hentgen, V., additional, Cathebras, P., additional, Dieudonné, M., additional, Picone, O., additional, Bodaghi, B., additional, Gangneux, J.P., additional, Degeilh, B., additional, Partouche, H., additional, Lenormand, C., additional, Sotto, A., additional, Raffetin, A., additional, Monsuez, J.J., additional, Michel, C., additional, Boulanger, N., additional, Lemogne, C., additional, and Tattevin, P., additional

Published
2019
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65. Lyme borreliosis and other tick-borne diseases. Guidelines from the French Scientific Societies (I): prevention, epidemiology, diagnosis

Author

Figoni, J., primary, Chirouze, C., additional, Hansmann, Y., additional, Lemogne, C., additional, Hentgen, V., additional, Saunier, A., additional, Bouiller, K., additional, Gehanno, J.F., additional, Rabaud, C., additional, Perrot, S., additional, Caumes, E., additional, Eldin, C., additional, de Broucker, T., additional, Jaulhac, B., additional, Roblot, F., additional, Toubiana, J., additional, Sellal, F., additional, Vuillemet, F., additional, Sordet, C., additional, Fantin, B., additional, Lina, G., additional, Gocko, X., additional, Dieudonné, M., additional, Picone, O., additional, Bodaghi, B., additional, Gangneux, J.P., additional, Degeilh, B., additional, Partouche, H., additional, Lenormand, C., additional, Sotto, A., additional, Raffetin, A., additional, Monsuez, J.J., additional, Michel, C., additional, Boulanger, N., additional, Cathebras, P., additional, and Tattevin, P., additional

Published
2019
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66. Classification criteria for autoinflammatory recurrent fevers

Author

Gattorno, M., Hofer, M., Federici, S., Vanoni, F., Bovis, F., Aksentijevich, I., Anton, J., Arostegui, J.I., Barron, K., Ben-Cherit, E., Brogan, P.A., Cantarini, L., Ceccherini, I., Benedetti, F. De, Dedeoglu, F., Demirkaya, E., Frenkel, J., Goldbach-Mansky, R., Gul, A., Hentgen, V., Hoffman, H., Kallinich, T., Kone-Paut, I., Kuemmerle-Deschner, J., Lachmann, H.J., Laxer, R.M., Livneh, A., Obici, L., Ozen, S., Rowczenio, D., Russo, R., Shinar, Y., Simon, A., Toplak, N., Touitou, I., Uziel, Y., Gijn, M. van, Foell, D., Garassino, C., Kastner, D., Martini, A., Sormani, M.P., Ruperto, N., Gattorno, M., Hofer, M., Federici, S., Vanoni, F., Bovis, F., Aksentijevich, I., Anton, J., Arostegui, J.I., Barron, K., Ben-Cherit, E., Brogan, P.A., Cantarini, L., Ceccherini, I., Benedetti, F. De, Dedeoglu, F., Demirkaya, E., Frenkel, J., Goldbach-Mansky, R., Gul, A., Hentgen, V., Hoffman, H., Kallinich, T., Kone-Paut, I., Kuemmerle-Deschner, J., Lachmann, H.J., Laxer, R.M., Livneh, A., Obici, L., Ozen, S., Rowczenio, D., Russo, R., Shinar, Y., Simon, A., Toplak, N., Touitou, I., Uziel, Y., Gijn, M. van, Foell, D., Garassino, C., Kastner, D., Martini, A., Sormani, M.P., and Ruperto, N.

Abstract

Contains fulltext : 208780.pdf (publisher's version ) (Closed access), BACKGROUND: Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean fever (FMF), tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD) and cryopyrin-associated periodic syndromes (CAPS)-and for the non-hereditary, periodic fever, aphthosis, pharyngitis and adenitis (PFAPA). We aimed to develop and validate new evidence-based classification criteria for HRF/PFAPA. METHODS: Step 1: selection of clinical, laboratory and genetic candidate variables; step 2: classification of 360 random patients from the Eurofever Registry by a panel of 25 clinicians and 8 geneticists blinded to patients' diagnosis (consensus >/=80%); step 3: statistical analysis for the selection of the best candidate classification criteria; step 4: nominal group technique consensus conference with 33 panellists for the discussion and selection of the final classification criteria; step 5: cross-sectional validation of the novel criteria. RESULTS: The panellists achieved consensus to classify 281 of 360 (78%) patients (32 CAPS, 36 FMF, 56 MKD, 37 PFAPA, 39 TRAPS, 81 undefined recurrent fever). Consensus was reached for two sets of criteria for each HRF, one including genetic and clinical variables, the other with clinical variables only, plus new criteria for PFAPA. The four HRF criteria demonstrated sensitivity of 0.94-1 and specificity of 0.95-1; for PFAPA, criteria sensitivity and specificity were 0.97 and 0.93, respectively. Validation of these criteria in an independent data set of 1018 patients shows a high accuracy (from 0.81 to 0.98). CONCLUSION: Eurofever proposes a novel set of validated classification criteria for HRF and PFAPA with high sensitivity and specificity.

Published
2019

67. Challenges in achieving consensus for vaccination with live attenuated vaccines in children with rheumatological disease – the variability of vaccination practices across the globe

Author

Toplak, Nataša, Uziel, Y, Khubchandani, R, Abinun, M, Atsali, E, Bolt, I, Boros, C, Boyko, Y, Calzada- Hernandez, J, Dallos, T, Fingerhutova, S, Gattorno, M, Hentgen, V, Lamot, Lovro, Makay, B, Minden, K, Opoka- Winiarska, V, Orban, I, Pileggi, G, Pruunsild, C, Rusoniene, S, Rygg, M, Scegolevs, A, Vojinović, J, and Wulffraat, N

Subjects
Vaccination, rheumatological diseases
Abstract

Introduction: Due to the paucity of randomised controlled studies concerning vaccination in children with rheumatic diseases, the level of evidence for recommendations for vaccinations in these children is low. Booster doses of live attenuated vaccines might be considered in children with rheumatic diseases treated with immunosuppressive therapy, but data from multicentre studies are lacking. Moreover, national vaccination programs, parental obligation to vaccinate their children and vaccine coverage rates vary greatly among countries. Objectives: To highlight differences in the current national vaccination policies, and to develop a platform for future multicentre initiatives for uniform vaccination practices for children with rheumatic diseases treated with immunosuppressive drugs. Methods: The PReS Vaccination working group was formed during the 2017 PReS meeting in Athens. Paediatric rheumatologists from 34 countries were invited to participate. Results: Data were collected from 25 countries who responded. Vaccinations are mandatory in 12/21 European countries (Croatia, Czech Republic, France, Greece, Hungary, Italy, Latvia, Poland, Serbia, Slovakia, Slovenia, Ukraine). The vaccination schedules and coverage differ among countries. The first MMR vaccine is recommended at 11-15 months- of-age in all countries and most recommend the second dose before 2 years-of-age or at 6 years ; however in Spain it is at 2-4 years, in the UK at 3-5 years, and in Hungary, The Netherlands, Estonia, Norway, Poland and Slovakia at the age of 9 years or later. Mandatory programs, as compared to optional vaccination, do not always ensure higher coverage. For example, in Australia, Israel, The Netherlands and Norway where vaccinations are optional, the vaccination rate is high, at around 95%. However, coverage for MMR fell below 95% in Croatia, Czech Republic, Serbia and Slovenia, where vaccination is mandatory. Vaccinations were optional in France and Italy ; however, due to low coverage, they are now mandatory. Conclusion: There are considerable differences amongst countries in vaccination programmes, coverage, and in parental obligation to vaccinate their child. A powerful anti-vaccine campaign has gained momentum in many countries and has resulted in a significant drop in vaccination coverage to a level that is no longer sufficient for herd immunity. This is especially dangerous for children with rheumatic diseases on immunosuppressive therapy. Our future goals are to prospectively examine the outcomes of live vaccination in children with rheumatic diseases who are treated with immunosuppressive drugs and hopefully to demonstrate that booster doses of live attenuated vaccines are safe and protective.

Published
2018

68. [Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature]

Author

Fayand, A., Sarrabay, G., Belot, Alexandre, Hentgen, V., Kone-Paut, I., Grateau, G., Melki, I., Georgin-Lavialle, S., Departement Hospitalo- Universitaire - Inflammation, Immunopathologie, Biothérapie [Paris] (DHU - I2B), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases, Centre International de Recherche en Infectiologie - UMR (CIRI), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Pédiatrie, Centre Hospitalier de Versailles André Mignot (CHV), Service d’Hématologie et Rhumatologie Pédiatrique [AP-HP Hôpital Bicêtre], Centre de Référence Maladies constitutionnelles du Globule rouge [AP-HP Hôpital Bicêtre]-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Service de Pédiatrie Générale du Pr. A. Faye, Hopital Robert Debré (APHP), Université Paris Diderot - Paris 7 (UPD7), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre)-Centre de Référence Maladies constitutionnelles du Globule rouge [AP-HP Hôpital Bicêtre], Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Trousseau [APHP], Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, Vasculitis, Monogenic vascularitis, AVC, Adenosine Deaminase, Livedo, Vascularite monogénique, ADA2, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, Auto-inflammation, Phenotype, Agammaglobulinemia, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Mutation, [SDV.IMM]Life Sciences [q-bio]/Immunology, Humans, Intercellular Signaling Peptides and Proteins, Female, Severe Combined Immunodeficiency, Immunosuppressive Agents, Ischemic strokes
Abstract

International audience; Deficiency of adenosine deaminase 2 (DADA2) is a recently described auto-inflammatory disorder. It is an autosomal recessive inherited disease, caused by mutations in the ADA2 gene (formerly known as CECR1) encoding ADA2 enzyme. Besides its role in the purine metabolism, it has been postulated that ADA2 may act as a growth factor for endothelial cells and in the differenciation of monocytes. Thus, deficiency of ADA2 would lead to endothelial damage and a skewing of monocytes into M1 pro-inflammatory macrophage, causing DADA2 manifestations. Three core clinical features have been described: inflammatory-vascular signs, hematologic abnormalities and immunodeficiency. Clinically, patients display intermittent fever, cutaneous vascular manifestations, such as livedo, ischemic strokes, arthralgia and abdominal pain crisis. Corticosteroids and immunosuppressive agents (i.e. cyclophosphamide, azathioprine, ciclosporin, methotrexate) appear to be poorly effective. Although the mechanism has not been elucidated, anti-TNF agents have been proven efficient in DADA2 and should therefore be used as first line therapy for vasculitis. Role of anti-platelet and anticoagulant therapies in stroke-prophylaxis remains to be discussed, as those patients display a high risk of intracranial bleeding.; Le déficit en adénosine déaminase 2 (DADA2) est une maladie auto-inflammatoire rare de description récente. Elle est de transmission génétique autosomique récessive, liée des mutations du gène ADA2 (ou CECR1) codant pour l’enzyme ADA2. Outre son rôle dans le métabolisme des purines, ADA2 agirait comme facteur de croissance pour les cellules endothéliales et dans la différenciation des monocytes ; ainsi ce serait la déviation en macrophages M1 pro-inflammatoire et la survenue de lésions endothéliales secondaires à l’absence d’ADA2 qui seraient à l’origine des manifestations du DADA2. Ses manifestations se regroupent en trois grands types : vasculaire inflammatoire, hématologique et immunologique pouvant remplir les critères diagnostiques d’une périartérite noueuse, d’une aplasie médullaire ou d’un déficit immunitaire commun, variable respectivement. Cliniquement, il existe des manifestations vasculaires cutanées, telles qu’un livedo, et une atteinte du système nerveux central à type d’accidents vasculaires cérébraux ischémiques et hémorragiques, ainsi que des arthralgies et des atteintes digestives. Les corticoïdes et les immunosuppresseurs sont peu efficaces et le traitement repose sur les anti-TNF pour les formes inflammatoires, sans que le mécanisme expliquant leur efficacité ne soit parfaitement élucidé. Ces derniers doivent être introduits en première intention. La place des antithrombotiques est débattue en raison du sur-risque d’hémorragie cérébrale.

Published
2017
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72. In silico validation of the Autoinflammatory Disease Damage Index

Author

Haar, N.M.R. van der, Delft, A.L.J. van, Annink, K.V., Stel, H. van, Al-Mayouf, S.M., Amaryan, G., Anton, J., Barron, K.S., Benseler, S., Brogan, P.A., Cantarini, L., Cattalini, M., Cochino, A.V., Benedetti, F. De, Dedeoglu, F., Jesus, A.A. De, Demirkaya, E., Dolezalova, P., Durrant, K.L., Fabio, G., Gallizzi, R., Goldbach-Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H.M., Insalaco, A., Jansson, A.F., Kallinich, T., Kone-Paut, I., Kozlova, A., Kuemmerle-Deschner, J.B., Lachmann, H.J., Laxer, R.M., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A.K., Ozen, S., Papadopoulou-Alataki, E., Quartier, P., Rigante, D., Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Schulert, G., Gattorno, M., Frenkel, J., Haar, N.M.R. van der, Delft, A.L.J. van, Annink, K.V., Stel, H. van, Al-Mayouf, S.M., Amaryan, G., Anton, J., Barron, K.S., Benseler, S., Brogan, P.A., Cantarini, L., Cattalini, M., Cochino, A.V., Benedetti, F. De, Dedeoglu, F., Jesus, A.A. De, Demirkaya, E., Dolezalova, P., Durrant, K.L., Fabio, G., Gallizzi, R., Goldbach-Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H.M., Insalaco, A., Jansson, A.F., Kallinich, T., Kone-Paut, I., Kozlova, A., Kuemmerle-Deschner, J.B., Lachmann, H.J., Laxer, R.M., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A.K., Ozen, S., Papadopoulou-Alataki, E., Quartier, P., Rigante, D., Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Schulert, G., Gattorno, M., and Frenkel, J.

Abstract

Item does not contain fulltext, INTRODUCTION: Autoinflammatory diseases can cause irreversible tissue damage due to systemic inflammation. Recently, the Autoinflammatory Disease Damage Index (ADDI) was developed. The ADDI is the first instrument to quantify damage in familial Mediterranean fever, cryopyrin-associated periodic syndromes, mevalonate kinase deficiency and tumour necrosis factor receptor-associated periodic syndrome. The aim of this study was to validate this tool for its intended use in a clinical/research setting. METHODS: The ADDI was scored on paper clinical cases by at least three physicians per case, independently of each other. Face and content validity were assessed by requesting comments on the ADDI. Reliability was tested by calculating the intraclass correlation coefficient (ICC) using an 'observer-nested-within-subject' design. Construct validity was determined by correlating the ADDI score to the Physician Global Assessment (PGA) of damage and disease activity. Redundancy of individual items was determined with Cronbach's alpha. RESULTS: The ADDI was validated on a total of 110 paper clinical cases by 37 experts in autoinflammatory diseases. This yielded an ICC of 0.84 (95% CI 0.78 to 0.89). The ADDI score correlated strongly with PGA-damage (r=0.92, 95% CI 0.88 to 0.95) and was not strongly influenced by disease activity (r=0.395, 95% CI 0.21 to 0.55). After comments from disease experts, some item definitions were refined. The interitem correlation in all different categories was lower than 0.7, indicating that there was no redundancy between individual damage items. CONCLUSION: The ADDI is a reliable and valid instrument to quantify damage in individual patients and can be used to compare disease outcomes in clinical studies.

Published
2018

73. In silico validation of the autoinflammatory disease damage index

Author

ter Haar, Nm, van Delft, Alj, Annink, Kv, van Stel, H, Al-Mayouf, Sm, Amaryan, G, Anton, J, Barron, K, Benseler, S, Brogan, Pa, Cantarini, L, Cattalini, M, Cochino, Av, De Benedetti, F, Dedeoglu, F, de Jesus, Aa, Demirkaya, E, Dolezalova, P, Durrant, Kl, Fabio, G, Gallizzi, R, Goldbach-Mansky, R, Hachulla, E, Hentgen, V, Herlin, T, Hofer, M, Hoffman, Hm, Insalaco, A, Jansson, Af, Kallinich, T, Koné-Paut, I, Kozlova, A, Kuemmerle-Deschner, Jb, Lachmann, Hj, Laxer, Rm, Martini, A, Nielsen, S, Nikishina, I, Ombrello, Ak, Özen, S, Papadopoulou-Alataki, E, Quartier, P, Rigante, Donato, Russo, R, Simon, A, Trachana, M, Uziel, Y, Ravelli, A, Schulert, G, Gattorno, M, Frenkel, J, Rigante D (ORCID:0000-0001-7032-7779), ter Haar, Nm, van Delft, Alj, Annink, Kv, van Stel, H, Al-Mayouf, Sm, Amaryan, G, Anton, J, Barron, K, Benseler, S, Brogan, Pa, Cantarini, L, Cattalini, M, Cochino, Av, De Benedetti, F, Dedeoglu, F, de Jesus, Aa, Demirkaya, E, Dolezalova, P, Durrant, Kl, Fabio, G, Gallizzi, R, Goldbach-Mansky, R, Hachulla, E, Hentgen, V, Herlin, T, Hofer, M, Hoffman, Hm, Insalaco, A, Jansson, Af, Kallinich, T, Koné-Paut, I, Kozlova, A, Kuemmerle-Deschner, Jb, Lachmann, Hj, Laxer, Rm, Martini, A, Nielsen, S, Nikishina, I, Ombrello, Ak, Özen, S, Papadopoulou-Alataki, E, Quartier, P, Rigante, Donato, Russo, R, Simon, A, Trachana, M, Uziel, Y, Ravelli, A, Schulert, G, Gattorno, M, Frenkel, J, and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

INTRODUCTION: Autoinflammatory diseases can cause irreversible tissue damage due to systemic inflammation. Recently, the Autoinflammatory Disease Damage Index (ADDI) was developed. The ADDI is the first instrument to quantify damage in familial Mediterranean fever, cryopyrin-associated periodic syndromes, mevalonate kinase deficiency and tumour necrosis factor receptor-associated periodic syndrome. The aim of this study was to validate this tool for its intended use in a clinical/research setting. METHODS: The ADDI was scored on paper clinical cases by at least three physicians per case, independently of each other. Face and content validity were assessed by requesting comments on the ADDI. Reliability was tested by calculating the intraclass correlation coefficient (ICC) using an 'observer-nested-within-subject' design. Construct validity was determined by correlating the ADDI score to the Physician Global Assessment (PGA) of damage and disease activity. Redundancy of individual items was determined with Cronbach's alpha. RESULTS: The ADDI was validated on a total of 110 paper clinical cases by 37 experts in autoinflammatory diseases. This yielded an ICC of 0.84 (95% CI 0.78 to 0.89). The ADDI score correlated strongly with PGA-damage (r=0.92, 95% CI 0.88 to 0.95) and was not strongly influenced by disease activity (r=0.395, 95% CI 0.21 to 0.55). After comments from disease experts, some item definitions were refined. The interitem correlation in all different categories was lower than 0.7, indicating that there was no redundancy between individual damage items. CONCLUSION: The ADDI is a reliable and valid instrument to quantify damage in individual patients and can be used to compare disease outcomes in clinical studies.

Published
2018

74. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry

Author

Lachmann, H.J., Papa, R., Gerhold, K., Obici, L., Touitou, I., Cantarini, L., Frenkel, J., Anton, J., Kone-Paut, I., Cattalini, M., Bader-Meunier, B., Insalaco, A., Hentgen, V., Merino, R., Modesto, C., Toplak, N., Berendes, R., Ozen, S., Cimaz, R., Jansson, A., Brogan, P.T., Hawkins, P.N., Ruperto, N., Martini, A., Woo, P., Gattorno, M., Advances in Veterinary Medicine, Dep Gezondheidszorg Paard, ES AVM, University College of London [London] (UCL), Istituto Giannina Gaslini, Genova, Immunologia Clinica e Sperimentale, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Fondazione IRCCS Policlinico San Matteo [Pavia], Università di Pavia, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Rheumatology Unit [Siena], University Medical Center [Utrecht], Universitat de Barcelona (UB), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), Università degli Studi di Brescia [Brescia], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Hospital Universitario La Paz [Madrid, Espagne], Vall d'Hebron University Hospital [Barcelona], University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Faculty of Medicine [Hacettepe University], Hacettepe University = Hacettepe Üniversitesi, Azienda Ospedaliero Universitaria Meyer, Ludwig-Maximilians-Universität München (LMU), This project is supported by the Executive Agency for Health and Consumers of the European Union (EAHC, Project Nos 2007332 and 200923) and by Coordination Theme 1 (Health) of the European Community’s FP7, grant agreement number HEALTH-F2-2008-200923. Unrestricted educational grants were also kindly provided by PRINTO and Novartis, European Project: 200923,EC:FP7:HEALTH,FP7-HEALTH-2007-A,EUROTRAPS(2008), Università degli Studi di Pavia = University of Pavia (UNIPV), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Università degli Studi di Brescia = University of Brescia (UniBs), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Philips, Alexandre, Natural course, pathophysiology, models for early diagnosis, prevention and innovative treatment of TNF Receptor Associated Periodic Syndrome TRAPS with application for all hereditary recurrent fevers - EUROTRAPS - - EC:FP7:HEALTH2008-04-01 - 2011-09-30 - 200923 - VALID, Çocuk Sağlığı ve Hastalıkları, Advances in Veterinary Medicine, Dep Gezondheidszorg Paard, ES AVM, and Universitat de Barcelona

Subjects
Male, Abdominal pain, Time Factors, Fever Syndromes, Type I, [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunity, Cohort Studies, 0302 clinical medicine, AA amyloidosis, Receptors, Malalties hereditàries, Immunology and Allergy, amyloidosis, fever syndromes, inflammation, Pediatric rheumatology, Registries, Family history, Child, [SDV.MHEP.RSOA] Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, 0303 health sciences, Amyloidosis, Middle Aged, Inflamació, Rash, 3. Good health, Phenotype, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Receptors, Tumor Necrosis Factor, Type I, TNF receptor associated periodic syndrome, Child, Preschool, Disease Progression, Female, Headaches, medicine.symptom, Genetic diseases, Adult, medicine.medical_specialty, Adolescent, Fever, Genotype, Immunology, Pain, General Biochemistry, Genetics and Molecular Biology, Young Adult, 03 medical and health sciences, Rheumatology, Febre, Internal medicine, medicine, Humans, Reumatologia pediàtrica, Preschool, [SDV.IMM.II] Life Sciences [q-bio]/Immunology/Innate immunity, Aged, Retrospective Studies, 030304 developmental biology, Inflammation, 030203 arthritis & rheumatology, business.industry, Hereditary Autoinflammatory Diseases, Retrospective cohort study, Clinical and Epidemiological Research, Exanthema, Autoinflammatory Syndrome, medicine.disease, Surgery, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Tumor Necrosis Factor, business
Abstract

International audience; Objective To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in patients from the Eurofever/EUROTRAPS international registry.Methods A web-based registry collected retrospective data on patients with TNFRSF1A sequence variants and inflammatory symptoms. Participating hospitals included paediatric rheumatology centres and adult centres with a specific interest in autoinflammatory diseases. Cases were independently validated by experts in the disease.Results Complete information on 158 validated patients was available. The most common TNFRSF1A variant was R92Q (34% of cases), followed by T50M (10%). Cysteine residues were disrupted in 27% of cases, accounting for 39% of sequence variants. A family history was present in 19% of patients with R92Q and 64% of those with other variants. The median age at which symptoms began was 4.3 years but 9.1% of patients presented after 30 years of age. Attacks were recurrent in 88% and the commonest features associated with the pathogenic variants were fever (88%), limb pain (85%), abdominal pain (74%), rash (63%) and eye manifestations (45%). Disease associated with R92Q presented slightly later at a median of 5.7 years with significantly less rash or eye signs and more headaches. Children were more likely than adults to present with lymphadenopathy, periorbital oedema and abdominal pains. AA amyloidosis has developed in 16 (10%) patients at a median age of 43 years.Conclusions In this, the largest reported case series to date, the genetic heterogeneity of TRAPS is accompanied by a variable phenotype at presentation. Patients had a median 70 symptomatic days a year, with fever, limb and abdominal pain and rash the commonest symptoms. Overall, there is little evidence of a significant effect of age or genotype on disease features at presentation.

Published
2013
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75. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

Author

Federici S., Sormani M. P., Ozen S., Lachmann H. J., Amaryan G., Woo P., Kone-Paut I., Dewarrat N., Cantarini L., Insalaco A., Uziel Y., Rigante D., Quartier P., Demirkaya E., Herlin T., Meini A., Fabio G., Kallinich T., Martino S., Butbul A. Y., Olivieri A., Kuemmerle-Deschner J., Neven B., Simon A., Ozdogan H., Touitou I., Frenkel J., Hofer M., Martini A., Ruperto N., Gattorno M., Espada G., Russo R., De Cunto C., Boros C., Borzutzky A., Jelusic-Drazic M., Dolezalova P., Nielsen S., Hentgen V., Schwarz T., Berendes R., Jansson A., Horneff G., Papadopoulou-Alataki E., Tsitsami E., Tsakalidou F. K., Gallizzi R., Obici L., Barone P., Cimaz R., Alessio M., Nishikomori R., Stanevicha V., Hoppenreijs E., Wolska-Kusnierz B., Iagaru N., Nikishina I., Al-Mayouf S. M., Sewairi, Susic G., Toplak N., Modesto C., Elorduy M. J. R., Anton J., Bou R., Federici, S., Sormani, M. P., Ozen, S., Lachmann, H. J., Amaryan, G., Woo, P., Kone-Paut, I., Dewarrat, N., Cantarini, L., Insalaco, A., Uziel, Y., Rigante, D., Quartier, P., Demirkaya, E., Herlin, T., Meini, A., Fabio, G., Kallinich, T., Martino, S., Butbul, A. Y., Olivieri, A., Kuemmerle-Deschner, J., Neven, B., Simon, A., Ozdogan, H., Touitou, I., Frenkel, J., Hofer, M., Martini, A., Ruperto, N., Gattorno, M., Espada, G., Russo, R., De Cunto, C., Boros, C., Borzutzky, A., Jelusic-Drazic, M., Dolezalova, P., Nielsen, S., Hentgen, V., Schwarz, T., Berendes, R., Jansson, A., Horneff, G., Papadopoulou-Alataki, E., Tsitsami, E., Tsakalidou, F. K., Gallizzi, R., Obici, L., Barone, P., Cimaz, R., Alessio, M., Nishikomori, R., Stanevicha, V., Hoppenreijs, E., Wolska-Kusnierz, B., Iagaru, N., Nikishina, I., Al-Mayouf, S. M., Sewairi, Susic, G., Toplak, N., Modesto, C., Elorduy, M. J. R., Anton, J., Bou, R., Istituto Giannina Gaslini, Genova, Immunologia Clinica e Sperimentale, University of Genoa (UNIGE), Hacettepe University = Hacettepe Üniversitesi, National Amyloidosis Centre, University College London Medical School, University College of London [London] (UCL), 'ARABKIR' JOINT MEDICAL CENTER & INSTITUTE OF CHILD AND ADOLESCENT HEALTH, Cardiac Unit, Institute of Child Health (UCL), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), University Hospital Center (CHUV) and University of Lausanne (UNIL), Lausanne, Università degli Studi di Siena = University of Siena (UNISI), Children's Hospital Bambino Gesù IRCCS [Rome], Meir Medical Centre, Università cattolica del Sacro Cuore [Roma] (Unicatt), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Ankara University School of Medicine [Turkey], Aarhus University Hospital, Università degli Studi di Brescia [Brescia], IRCCS Istituto Nazionale dei Tumori [Milano], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Università degli studi di Torino (UNITO), Rambam Medical Health Center, Israel., Universita degli studi di Napoli 'Parthenope' [Napoli], Universitätsklinikum Tübingen - University Hospital of Tübingen, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Radboud University Medical Centre [Nijmegen, The Netherlands], Cerrahpasa Faculty of Medicine, Istanbul University, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University Medical Center [Utrecht], Geneva University Hospital (HUG), Universita degli studi di Genova, and Olivieri, Alma Nunzia

Subjects
Male, Pediatrics, Multivariate analysis, [SDV]Life Sciences [q-bio], Fever Syndromes, Familial Mediterranean fever, Immunology and Allergy, Mevalonate Kinase Deficiency/classification/diagnosis, Registries, Child, ddc:618, Evidence-Based Medicine, Middle Aged, Pharyngitis, 3. Good health, Familial Mediterranean Fever, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Autoinflammation, Familial Mediterranean Fever/classification/diagnosis, Female, medicine.symptom, Periodic fever syndrome, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Adult, medicine.medical_specialty, Fever, Adolescent, Immunology, Cryopyrin-Associated Periodic Syndromes/classification/diagnosis, Sensitivity and Specificity, General Biochemistry, Genetics and Molecular Biology, Young Adult, Inflammation, Rheumatology, medicine, Humans, Preschool, Hereditary Autoinflammatory Diseases/classification/diagnosis, Receiver operating characteristic, business.industry, Hereditary Autoinflammatory Diseases, Case-control study, Cryopyrin-associated periodic syndrome, Infant, Gold standard (test), medicine.disease, Case-Control Studies, Cryopyrin-Associated Periodic Syndromes, Mevalonate Kinase Deficiency, ROC Curve, business
Abstract

Item does not contain fulltext The objective of this work was to develop and validate a set of clinical criteria for the classification of patients affected by periodic fevers. Patients with inherited periodic fevers (familial Mediterranean fever (FMF); mevalonate kinase deficiency (MKD); tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS); cryopyrin-associated periodic syndromes (CAPS)) enrolled in the Eurofever Registry up until March 2013 were evaluated. Patients with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome were used as negative controls. For each genetic disease, patients were considered to be 'gold standard' on the basis of the presence of a confirmatory genetic analysis. Clinical criteria were formulated on the basis of univariate and multivariate analysis in an initial group of patients (training set) and validated in an independent set of patients (validation set). A total of 1215 consecutive patients with periodic fevers were identified, and 518 gold standard patients (291 FMF, 74 MKD, 86 TRAPS, 67 CAPS) and 199 patients with PFAPA as disease controls were evaluated. The univariate and multivariate analyses identified a number of clinical variables that correlated independently with each disease, and four provisional classification scores were created. Cut-off values of the classification scores were chosen using receiver operating characteristic curve analysis as those giving the highest sensitivity and specificity. The classification scores were then tested in an independent set of patients (validation set) with an area under the curve of 0.98 for FMF, 0.95 for TRAPS, 0.96 for MKD, and 0.99 for CAPS. In conclusion, evidence-based provisional clinical criteria with high sensitivity and specificity for the clinical classification of patients with inherited periodic fevers have been developed.

Published
2015
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81. Development of the autoinflammatory disease damage index (ADDI)

Author

Haar, N.M.R. van der, Annink, K.V., Al-Mayouf, S.M., Amaryan, G., Anton, J., Barron, K.S., Benseler, S.M., Brogan, P.A., Cantarini, L., Cattalini, M., Cochino, A.V., Benedetti, F. De, Dedeoglu, F., Jesus, A.A. De, Alberighi, O. Della Casa, Demirkaya, E., Dolezalova, P., Durrant, K.L., Fabio, G., Gallizzi, R., Goldbach-Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H.M., Insalaco, A., Jansson, A.F., Kallinich, T., Kone-Paut, I., Kozlova, A., Kuemmerle-Deschner, J.B., Lachmann, H.J., Laxer, R.M., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A.K., Ozen, S., Papadopoulou-Alataki, E., Quartier, P., Rigante, D., Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Gattorno, M., Frenkel, J., Haar, N.M.R. van der, Annink, K.V., Al-Mayouf, S.M., Amaryan, G., Anton, J., Barron, K.S., Benseler, S.M., Brogan, P.A., Cantarini, L., Cattalini, M., Cochino, A.V., Benedetti, F. De, Dedeoglu, F., Jesus, A.A. De, Alberighi, O. Della Casa, Demirkaya, E., Dolezalova, P., Durrant, K.L., Fabio, G., Gallizzi, R., Goldbach-Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H.M., Insalaco, A., Jansson, A.F., Kallinich, T., Kone-Paut, I., Kozlova, A., Kuemmerle-Deschner, J.B., Lachmann, H.J., Laxer, R.M., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A.K., Ozen, S., Papadopoulou-Alataki, E., Quartier, P., Rigante, D., Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Gattorno, M., and Frenkel, J.

Abstract

Item does not contain fulltext, OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency. METHODS: We developed the ADDI by consensus building. The top 40 enrollers of patients in the Eurofever Registry and 9 experts from the Americas participated in multiple rounds of online surveys to select items and definitions. Further, 22 (parents of) patients rated damage items and suggested new items. A consensus meeting was held to refine the items and definitions, which were then formally weighted in a scoring system derived using decision-making software, known as 1000minds. RESULTS: More than 80% of the experts and patients completed the online surveys. The preliminary ADDI contains 18 items, categorised in the following eight organ systems: reproductive, renal/amyloidosis, developmental, serosal, neurological, ears, ocular and musculoskeletal damage. The categories renal/amyloidosis and neurological damage were assigned the highest number of points, serosal damage the lowest number of points. The involvement of (parents of) patients resulted in the inclusion of, for example, chronic musculoskeletal pain. CONCLUSIONS: An instrument to measure damage caused by autoinflammatory diseases is developed based on consensus building. Patients fulfilled a significant role in this process.

Published
2017

82. Development of the Autoinflammatory Disease Damage Index (ADDI)

Author

Annink, K, ter Haar, N, Al Mayouf, S, Amaryan, G, Anton, J, Barron, K, Benseler, S, Brogan, P, Cantarini, L, Cattalini, M, Cochino, A, De Benedetti, F, Dedeoglu, F, De Jesus, A, Dellacasa, O, Demirkaya, E, Dolezalova, P, Durrant, K, Fabio, G, Gallizzi, R, Goldbach Mansky, R, Hachulla, E, Hentgen, V, Herlin, T, Hofer, M, Hoffman, H, Jansson, A, Kallinich, T, Koné Paut, I, Kozlova, A, Kuemmerle Deschner, J, Lachmann, H, Laxer, R, Martini, A, Nielsen, S, Nikishina, I, Ombrello, A, Ozen, S, Papadopoulou Alataki, E, Quartier, P, Ravelli, A, Rigante, Donato, Russo, R, Simon, A, Trachana, M, Uziel, Y, Gattorno, M, Frenkel, J., Rigante, Donato (ORCID:0000-0001-7032-7779), Annink, K, ter Haar, N, Al Mayouf, S, Amaryan, G, Anton, J, Barron, K, Benseler, S, Brogan, P, Cantarini, L, Cattalini, M, Cochino, A, De Benedetti, F, Dedeoglu, F, De Jesus, A, Dellacasa, O, Demirkaya, E, Dolezalova, P, Durrant, K, Fabio, G, Gallizzi, R, Goldbach Mansky, R, Hachulla, E, Hentgen, V, Herlin, T, Hofer, M, Hoffman, H, Jansson, A, Kallinich, T, Koné Paut, I, Kozlova, A, Kuemmerle Deschner, J, Lachmann, H, Laxer, R, Martini, A, Nielsen, S, Nikishina, I, Ombrello, A, Ozen, S, Papadopoulou Alataki, E, Quartier, P, Ravelli, A, Rigante, Donato, Russo, R, Simon, A, Trachana, M, Uziel, Y, Gattorno, M, Frenkel, J., and Rigante, Donato (ORCID:0000-0001-7032-7779)

Abstract

This is an international consensus-baseed instrument to measure damage caused by hereditary autoinflammatory diseases.

Published
2017

83. Development of the autoinflammatory diseases damage index (ADDI)

Author

ter Haar, N., Annink, K., Al Mayouf, S., Amaryan, G., Anton, J., Barron, K. s., Benseler, S. m., Brogan, P. a., Cantarini, L., Cattalini, M., Cochino, A. v., De Benedetti, F., Dedeoglu, F., De Jesus, A. a., Della Casa Alberighi, O., Demirkaya, E., Dolezalova, P., Durrant, K. l., Fabio, G., Gallizzi, R., Goldbach Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H. m., Insalaco, A., Jansson, A. f., Kallinich, T., Koné Paut, I., Kozlova, A., Kuemmerle Deschner, J. b., Lachmann, H. j., Laxer, R. m., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A. k., Ozen, S., Papadopoulou Alataki, E., Quartier, P., Rigante, Donato, Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Gattorno, M., Frenkel, J., Rigante, Donato (ORCID:0000-0001-7032-7779), ter Haar, N., Annink, K., Al Mayouf, S., Amaryan, G., Anton, J., Barron, K. s., Benseler, S. m., Brogan, P. a., Cantarini, L., Cattalini, M., Cochino, A. v., De Benedetti, F., Dedeoglu, F., De Jesus, A. a., Della Casa Alberighi, O., Demirkaya, E., Dolezalova, P., Durrant, K. l., Fabio, G., Gallizzi, R., Goldbach Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H. m., Insalaco, A., Jansson, A. f., Kallinich, T., Koné Paut, I., Kozlova, A., Kuemmerle Deschner, J. b., Lachmann, H. j., Laxer, R. m., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A. k., Ozen, S., Papadopoulou Alataki, E., Quartier, P., Rigante, Donato, Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Gattorno, M., Frenkel, J., and Rigante, Donato (ORCID:0000-0001-7032-7779)

Abstract

OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency. METHODS: We developed the ADDI by consensus building. The top 40 enrollers of patients in the Eurofever Registry and 9 experts from the Americas participated in multiple rounds of online surveys to select items and definitions. Further, 22 (parents of) patients rated damage items and suggested new items. A consensus meeting was held to refine the items and definitions, which were then formally weighted in a scoring system derived using decision-making software, known as 1000minds. RESULTS: More than 80% of the experts and patients completed the online surveys. The preliminary ADDI contains 18 items, categorised in the following eight organ systems: reproductive, renal/amyloidosis, developmental, serosal, neurological, ears, ocular and musculoskeletal damage. The categories renal/amyloidosis and neurological damage were assigned the highest number of points, serosal damage the lowest number of points. The involvement of (parents of) patients resulted in the inclusion of, for example, chronic musculoskeletal pain. CONCLUSIONS: An instrument to measure damage caused by autoinflammatory diseases is developed based on consensus building. Patients fulfilled a significant role in this process.

Published
2017

85. Les mutations à l’origine de la fièvre méditerranéenne familiale entraînent un abaissement du seuil d’activation spécifique de l’inflammasome pyrine

Author

Jamilloux, Y., primary, Lefeuvre, L., additional, Martin, A., additional, Magnotti, F., additional, Penel-Page, M., additional, Hentgen, V., additional, Sève, P., additional, Gerfaud-valentin, M., additional, Dusquene, A., additional, Walzer, T., additional, Belot, A., additional, and Henry, T., additional

Published
2016
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92. Rhumatismes à début juvénile (JIRcohorte): suivi prospectif d’une cohorte de plus de 1800 patients

Author

Hofer, M., primary, Hentgen, V., additional, Bader-Meunier, B., additional, Lavialle, S. Georgin, additional, Guex-Crosier, Y., additional, Rossi-Semerano, L., additional, Scolozzi, P., additional, Woerner, A., additional, Fonjallaz, B., additional, Wouters, C., additional, Carlomagno, R., additional, Cabrera, N., additional, Cannizzaro, E., additional, Schroeder, S., additional, Kaiser, D., additional, Merlin, E., additional, Despert, V., additional, Ballot, C., additional, Poignant, S., additional, Lohse, A., additional, Carbasse, A., additional, Bar, W., additional, Bouayed, K., additional, Freychet, C., additional, Koné-Paut, I., additional, and Belot, A., additional

Published
2016
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94. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

Author

Haar, Nienke Ter, Lachmann, Helen, Özen, Seza, Woo, Pat, Uziel, Yosef, Modesto, Consuelo, Koné Paut, Isabelle, Cantarini, Luca, Insalaco, Antonella, Neven, Bénédicte, Hofer, Michael, Rigante, Donato, Al Mayouf, Sulaiman, Touitou, Isabelle, Gallizzi, Romina, Papadopoulou Alataki, Efimia, Martino, Silvana, Kuemmerle Deschner, Jasmin, Obici, Laura, Iagaru, Nicolae, Simon, Anna, Nielsen, Susan, Martini, Alberto, Ruperto, Nicolino, Gattorno, Marco, Frenkel, Joost, Kondi, A, De Cunto, C, Espada, G, Russo, R, Amaryan, G, Boros, C, Wouters, C, de Oliveira SK, Borzutzky, A, Jelusic Drazic, M, Dolezalova, P, Herlin, T, Desjonqueres, M, Djeddi, D, Hentgen, V, Darce, M, Ioseliani, M, Berendes, R, Horneff, G, Jansson, A, Minden, K, Schwarz, T, Trauzeddel, R, Kanakoudi Tsakalidou, F, Vougiouka, O, Constantin, T, Rao, Ap, Brik, R, Harel, L, Alessio, M, Breda, L, Cimaz, R, Consolini, Rita, Fabio, G, Garozzo, R, Lepore, L, Manna, R, Meini, A, Olivieri, An, Stanevicha, V, Rusoniene, S, Hoppenreijs, E, Al Abrawi Sy, Nikishina, I, Sewairi, Wm, Susic, G, Ciznar, P, Avcin, T, Anton, J, Bou, R, Merino, R, Elorduy, Mj, Fasth, A, Aksu, G, Demirkaya, E., Ter Haar, N., Lachmann, H., Özen, S., Woo, P., Uziel, Y., Modesto, C., Koné Paut, I., Cantarini, L., Insalaco, A., Neven, B., Hofer, M., Rigante, D., Al Mayouf, S., Touitou, I., Gallizzi, R., Papadopoulou Alataki, E., Martino, S., Kuemmerle Deschner, J., Obici, L., Iagaru, N., Simon, A., Nielsen, S., Martini, A., Ruperto, N., Gattorno, M., Frenkel, J., and Olivieri, Alma Nunzia

Subjects
Genetics and Molecular Biology (all), medicine.medical_specialty, PFAPA syndrome, Immunology, autoinflammatory diseases, Eurofever, Registry, Familial Mediterranean fever, Disease, Biochemistry, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, autoinflammatory disease, Internal medicine, Acne Vulgaris, medicine, Immunology and Allergy, Humans, Registries, 030304 developmental biology, 030203 arthritis & rheumatology, 0303 health sciences, Arthritis, Infectious, Mevalonate kinase deficiency, business.industry, Hyper-IgD syndrome, Arthritis, Settore MED/09 - MEDICINA INTERNA, Infectious, Cryopyrin-associated periodic syndrome, medicine.disease, Cryopyrin-Associated Periodic Syndromes, Pyoderma Gangrenosum, 3. Good health, Familial Mediterranean Fever, Pathogenesis and modulation of inflammation [N4i 1], Europe, TNF receptor associated periodic syndrome, Mevalonate Kinase Deficiency, Biochemistry, Genetics and Molecular Biology (all), business
Abstract

Item does not contain fulltext OBJECTIVE: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. METHODS: The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase. RESULTS: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative. CONCLUSIONS: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.

Published
2013

95. An international registry on autoinflammatory diseases: the Eurofever experience

Author

Toplak, N., Frenkel, J., Ozen, S., Lachmann, H.J., Woo, P., Kone-Paut, I., Benedetti, F. De, Neven, B., Hofer, M., Dolezalova, P., Kummerle-Deschner, J., Touitou, I., Hentgen, V., Simon, A., Girschick, H., Rose, C., Wouters, C., Vesely, R., Arostegui, J., Stojanov, S., Ozgodan, H., Martini, A., Ruperto, N., Gattorno, M., Paediatric Rheumatology International Trials Organisation, E., and Eurofever, P.

Subjects
Male, Pediatrics, International Cooperation, Familial Mediterranean fever, Disease, Global Health, 0302 clinical medicine, Global health, Immunology and Allergy, Registries, Young adult, Child, Aged, 80 and over, 0303 health sciences, Behcet Syndrome, Middle Aged, Familial Mediterranean Fever, 3. Good health, Pathogenesis and modulation of inflammation [N4i 1], Child, Preschool, Female, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Immunology, MEDLINE, Genes, Recessive, Context (language use), General Biochemistry, Genetics and Molecular Biology, Young Adult, 03 medical and health sciences, Rheumatology, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Aged, Demography, 030304 developmental biology, 030203 arthritis & rheumatology, Internet, business.industry, Hereditary Autoinflammatory Diseases, Infant, medicine.disease, Cryopyrin-Associated Periodic Syndromes, Clinical diagnosis, business
Abstract

Item does not contain fulltext OBJECTIVE: To report on the demographic data from the first 18 months of enrollment to an international registry on autoinflammatory diseases in the context of the Eurofever project. METHODS: A web-based registry collecting baseline and clinical information on autoinflammatory diseases and related conditions is available in the member area of the PRINTO web-site. Anonymised data were collected with standardised forms. RESULTS: 1880 (M:F=916:964) individuals from 67 centers in 31 countries have been entered in the Eurofever registry. Most of the patients (1388; 74%), reside in western Europe, 294 (16%) in the eastern and southern Mediterranean region (Turkey, Israel, North Africa), 106 (6%) in eastern Europe, 54 in Asia, 27 in South America and 11 in Australia. In total 1049 patients with a clinical diagnosis of a monogenic autoinflammatory diseases have been enrolled; genetic analysis was performed in 993 patients (95%): 703 patients have genetically confirmed disease and 197 patients are heterozygous carriers of mutations in genes that are mutated in patients with recessively inherited autoinflammatory diseases. The median diagnosis delay was 7.3 years (range 0.3-76), with a clear reduction in patients born after the identification of the first gene associated with autoinflammatory diseases in 1997. CONCLUSIONS: A shared online registry for patients with autoinflammatory diseases is available and enrollment is ongoing. Currently, there are data available for analysis on clinical presentation, disease course, and response to treatment, and to perform large scale comparative studies between different conditions.

Published
2012
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96. Recommendations for the management of autoinflammatory diseases

Author

Haar, N.M.R. van der, Oswald, M., Jeyaratnam, J., Anton, J., Barron, K.S., Brogan, P.A., Cantarini, L., Galeotti, C., Grateau, G., Hentgen, V., Hofer, M., Kallinich, T., Kone-Paut, I., Lachmann, H.J., Ozdogan, H., Ozen, S., Russo, R., Simon, A., Uziel, Y., Wouters, C., Feldman, B.M., Vastert, S.J., Wulffraat, N.M., Benseler, S.M., Frenkel, J., Gattorno, M., Kuemmerle-Deschner, J.B., Haar, N.M.R. van der, Oswald, M., Jeyaratnam, J., Anton, J., Barron, K.S., Brogan, P.A., Cantarini, L., Galeotti, C., Grateau, G., Hentgen, V., Hofer, M., Kallinich, T., Kone-Paut, I., Lachmann, H.J., Ozdogan, H., Ozen, S., Russo, R., Simon, A., Uziel, Y., Wouters, C., Feldman, B.M., Vastert, S.J., Wulffraat, N.M., Benseler, S.M., Frenkel, J., Gattorno, M., and Kuemmerle-Deschner, J.B.

Abstract

Item does not contain fulltext

Published
2015

97. Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever

Author

Giancane, G., Ter Haar, N.M., Wulffraat, N., Vastert, S.J., Barron, K., Hentgen, V., Kallinich, T., Ozdogan, H., Anton, J., Brogan, P., Cantarini, L., Frenkel, J., Galeotti, C., Gattorno, M., Grateau, G., Hofer, M., Kone-Paut, I., Kuemmerle-Deschner, J., Lachmann, H.J., Simon, A., Demirkaya, E., Feldman, B., Uziel, Y., Ozen, S., Giancane, G., Ter Haar, N.M., Wulffraat, N., Vastert, S.J., Barron, K., Hentgen, V., Kallinich, T., Ozdogan, H., Anton, J., Brogan, P., Cantarini, L., Frenkel, J., Galeotti, C., Gattorno, M., Grateau, G., Hofer, M., Kone-Paut, I., Kuemmerle-Deschner, J., Lachmann, H.J., Simon, A., Demirkaya, E., Feldman, B., Uziel, Y., and Ozen, S.

Abstract

Item does not contain fulltext, Familial Mediterranean fever (FMF) is a disease of early onset which can lead to significant morbidity. In 2012, Single Hub and Access point for pediatric Rheumatology in Europe (SHARE) was launched with the aim of optimising and disseminating diagnostic and management regimens for children and young adults with rheumatic diseases. The objective was to establish recommendations for FMF focusing on provision of diagnostic tools for inexperienced clinicians particularly regarding interpretation of MEFV mutations. Evidence-based recommendations were developed using the European League against Rheumatism standard operating procedure. An expert committee of paediatric rheumatologists defined search terms for the systematic literature review. Two independent experts scored articles for validity and level of evidence. Recommendations derived from the literature were evaluated by an online survey and statements with less than 80% agreement were reformulated. Subsequently, all recommendations were discussed at a consensus meeting using the nominal group technique and were accepted if more than 80% agreement was reached. The literature search yielded 3386 articles, of which 25 were considered relevant and scored for validity and level of evidence. In total, 17 articles were scored valid and used to formulate the recommendations. Eight recommendations were accepted with 100% agreement after the consensus meeting. Topics covered were clinical versus genetic diagnosis of FMF, genotype-phenotype correlation, genotype-age at onset correlation, silent carriers and risk of amyloid A (AA) amyloidosis, and role of the specialist in FMF diagnosis. The SHARE initiative provides recommendations for diagnosing FMF aimed at facilitating improved and uniform care throughout Europe.

Published
2015

98. Recommendations for the management of autoinflammatory diseases

Author

ter Haar, N., Oswald, M., Jeyaratnam, J., Anton, J., Barron, K., Brogan, P., Cantarini, L., Galeotti, C., Grateau, G., Hentgen, V., Hofer, M., Kallinich, T., Kone-Paut, I., Lachmann, H., Ozdogan, H., Ozen, S., Russo, R., Simon, A., Uziel, Y., Wouters, C., Feldman, B., Vastert, B., Wulffraat, N., Benseler, S., Frenkel, J., Gattorno, M., Kuemmerle-Deschner, J., ter Haar, N., Oswald, M., Jeyaratnam, J., Anton, J., Barron, K., Brogan, P., Cantarini, L., Galeotti, C., Grateau, G., Hentgen, V., Hofer, M., Kallinich, T., Kone-Paut, I., Lachmann, H., Ozdogan, H., Ozen, S., Russo, R., Simon, A., Uziel, Y., Wouters, C., Feldman, B., Vastert, B., Wulffraat, N., Benseler, S., Frenkel, J., Gattorno, M., and Kuemmerle-Deschner, J.

Published
2015

99. Recommendations for the management of autoinflammatory diseases

Author

CTI Vastert, Infection & Immunity, Child Health, Poli Van Creveldkliniek Medisch, Reumatologie patientenzorg, Immuno/reuma onderzoek 1 (Vastert), Cluster B, Regenerative Medicine and Stem Cells, Immuno/reuma patientenzorg, Arts-assistenten Kinderen, ter Haar, N., Oswald, M., Jeyaratnam, J., Anton, J., Barron, K., Brogan, P., Cantarini, L., Galeotti, C., Grateau, G., Hentgen, V., Hofer, M., Kallinich, T., Kone-Paut, I., Lachmann, H., Ozdogan, H., Ozen, S., Russo, R., Simon, A., Uziel, Y., Wouters, C., Feldman, B., Vastert, B., Wulffraat, N., Benseler, S., Frenkel, J., Gattorno, M., Kuemmerle-Deschner, J., CTI Vastert, Infection & Immunity, Child Health, Poli Van Creveldkliniek Medisch, Reumatologie patientenzorg, Immuno/reuma onderzoek 1 (Vastert), Cluster B, Regenerative Medicine and Stem Cells, Immuno/reuma patientenzorg, Arts-assistenten Kinderen, ter Haar, N., Oswald, M., Jeyaratnam, J., Anton, J., Barron, K., Brogan, P., Cantarini, L., Galeotti, C., Grateau, G., Hentgen, V., Hofer, M., Kallinich, T., Kone-Paut, I., Lachmann, H., Ozdogan, H., Ozen, S., Russo, R., Simon, A., Uziel, Y., Wouters, C., Feldman, B., Vastert, B., Wulffraat, N., Benseler, S., Frenkel, J., Gattorno, M., and Kuemmerle-Deschner, J.

Published
2015

100. Recommendations for the management of autoinflammatory diseases

Author

ter Haar, N, primary, Oswald, M, additional, Jeyaratnam, J, additional, Anton, J, additional, Barron, K, additional, Brogan, P, additional, Cantarini, L, additional, Galeotti, C, additional, Grateau, G, additional, Hentgen, V, additional, Hofer, M, additional, Kallinich, T, additional, Kone-Paut, I, additional, Lachmann, H, additional, Ozdogan, H, additional, Ozen, S, additional, Russo, R, additional, Simon, A, additional, Uziel, Y, additional, Wouters, C, additional, Feldman, B, additional, Vastert, B, additional, Wulffraat, N, additional, Benseler, S, additional, Frenkel, J, additional, Gattorno, M, additional, and Kuemmerle-Deschner, J, additional

Published
2015
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