Search

Your search keyword '"Gattorno, M"' showing total 987 results
Start Over Author "Gattorno, M"
987 results on '"Gattorno, M"'

151. FRI0489 Canakinumab Improves Patient Reported Outcomes in Patients with Periodic Fever Syndromes: Table 1.

Author

Lachmann, H., primary, Simon, A., additional, Anton, J., additional, Gattorno, M., additional, Kone-Paut, I., additional, Ozen, S., additional, Frenkel, J., additional, Ben-Chetrit, E., additional, Hoffman, H., additional, Zeft, A., additional, Joubert, Y., additional, Lheritier, K., additional, Speziale, A., additional, Junge, G., additional, Gregson, J., additional, and De Benedetti, F., additional

Published
2016
Full Text
View/download PDF

152. Resistance to tumor necrosis factor (TNF)-induced apoptosis is a feature of TNF receptor associated periodic syndrome (TRAPS) with mutations of cysteine residues or interstitial deletion

Author

Gattorno, M., D Osualdo, A., Ferlito, F., Laura, O., Ignazia Prigione, Meini, A., Zulian, F., Era, L., Tommasini, A., Barcellona, R., Traverso, F., Plebani, A., Ceccherini, I., Martini, A., Gattorno, M, D'Osualdo, A, Ferlito, F, Laura, O, Prigione, I, Meini, A, Zulian, F, Dell'Era, L, Tommasini, A, Barcellona, R, Traverso, F, Plebani, A, Ceccherini, I, and Martini, A

Published
2005

153. Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance

Author

Carta, S., Penco, F., Lavieri, R., Martini, A., Dinarello, C.A., Gattorno, M., Rubartelli, A., Carta, S., Penco, F., Lavieri, R., Martini, A., Dinarello, C.A., Gattorno, M., and Rubartelli, A.

Abstract

Item does not contain fulltext, Cell stress is implicated in triggering bouts of systemic inflammation in patients with autoinflammatory disorders. Blood monocytes from patients affected by NLRP3-mediated cryopyrin-associated periodic syndromes (CAPS) release greater amounts of IL-1beta than monocytes from unaffected subjects. Here we show that stress lowers the threshold of activation; blood monocytes from CAPS patients maintain the high levels of secreted IL-1beta (fivefold) and IL-18 (10-fold) when stimulated with 1,000-fold less LPS than that required for full IL-1beta secretion in control subjects. Unexpectedly, IL-1alpha secretion is increased 10-fold, indicating that inflammatory episodes in CAPS may not be entirely a result of IL-1beta but may also involve IL-1alpha. In CAPS monocytes, LPS induces the externalization of copious amounts of ATP (10-fold), which drive IL-1beta, IL-18, and IL-1alpha release via activation of the P2X purinoceptor 7. This enhanced ATP release appears to be the link between cell stress and increased cytokine secretion in CAPS. In the later phase after LPS stimulation, CAPS monocytes undergo oxidative stress, which impairs production of the anti-inflammatory IL-1 receptor antagonist (IL-1Ra). Remarkably, IL-1Ra secretion is fully restored by treatment with antioxidants. In two patients with the same NLRP3 mutation, but different disease severity, monocytes from the mildly affected patient exhibited more efficient redox response, lower ATP secretion, and more balanced cytokine production. Thus, the robustness of the individual antioxidant response increases the tolerance to stress and reduces the negative effect of the disease. Pharmacologic block of P2X purinoceptor 7 and improved stress tolerance may represent novel treatment strategies in stress-associated inflammatory diseases.

Published
2015

154. 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

155. 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

156. 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

158. Development and validation of juvenile autoinflammatory disease multidimensional assessment report (JAIMAR)

Author

Konukbay, D., Yildiz, D., Acikel, C., Sozeri, B., Makay, B., Ayaz, N. A., Barut, K., Kisaarslan, A., Bilginer, Y., Peru, H., Erdogan, O., Unsal, E., Kasapcopur, O., Gunduz, Z., Ravelli, A., Kone-Paut, I., Frenkel, J., Gattorno, M., Ozen, S., Demirkaya, E., Konukbay, D., Yildiz, D., Acikel, C., Sozeri, B., Makay, B., Ayaz, N. A., Barut, K., Kisaarslan, A., Bilginer, Y., Peru, H., Erdogan, O., Unsal, E., Kasapcopur, O., Gunduz, Z., Ravelli, A., Kone-Paut, I., Frenkel, J., Gattorno, M., Ozen, S., and Demirkaya, E.

Published
2015

163. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.

Author

Federici, S, Sormani, MP, Ozen, S, Lachmann, HJ, Amaryan, G, Woo, P, Koné-Paut, I, Dewarrat, N, Cantarini, L, Insalaco, A, Uziel, Y, RIGANTE, DONATO, Quartier, P, Demirkaya, E, Herlin, T, Meini, A, Fabio, G, Kallinich, T, Martino, S, Butbul, AY, Olivieri, A, Kuemmerle-Deschner, J, Neven, B, Simon, A, Ozdogan, H, Touitou, I, Frenkel, J, Hofer, M, Martini, A, Ruperto, N, Gattorno, M, Federici, S, Sormani, MP, Ozen, S, Lachmann, HJ, Amaryan, G, Woo, P, Koné-Paut, I, Dewarrat, N, Cantarini, L, Insalaco, A, Uziel, Y, RIGANTE, DONATO, Quartier, P, Demirkaya, E, Herlin, T, Meini, A, Fabio, G, Kallinich, T, Martino, S, Butbul, AY, Olivieri, A, Kuemmerle-Deschner, J, Neven, B, Simon, A, Ozdogan, H, Touitou, I, Frenkel, J, Hofer, M, Martini, A, Ruperto, N, and Gattorno, M

Published
2015

164. 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., 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., and Gattorno, M.

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

165. Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome : a series of 136 patients from the Eurofever Registry

Author

Levy, R., Gerard, L., Kuemmerle-Deschner, J., Lachmann, H. J., Kone-Paut, I., Cantarini, L., Woo, P., Naselli, A., Bader-Meunier, B., Insalaco, A., AI-Mayoutl, S. M., Ozen, S., Hofer, M., Frenkel, J., Modesto, C., Nikishina, I., Schwarz, T., Martino, S., Meini, A., Quartier, P., Martini, A., Ruperto, N., Neven, B., Gattorno, M., PRINTO, Eurofever, Levy, R., Gerard, L., Kuemmerle-Deschner, J., Lachmann, H. J., Kone-Paut, I., Cantarini, L., Woo, P., Naselli, A., Bader-Meunier, B., Insalaco, A., AI-Mayoutl, S. M., Ozen, S., Hofer, M., Frenkel, J., Modesto, C., Nikishina, I., Schwarz, T., Martino, S., Meini, A., Quartier, P., Martini, A., Ruperto, N., Neven, B., Gattorno, M., PRINTO, and Eurofever

Published
2015

166. Genetic and phenotypic characteristics of 114 patients with mevalonate kinase deficiency

Author

Poli Van Creveldkliniek Medisch, CTI Vastert, Infection & Immunity, Child Health, Arts-assistenten Kinderen, Jeyaratnam, J., ter Haar, N., Lachmann, H., Simon, A., Brogan, P., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Frenkel, J., Gattorno, M., Poli Van Creveldkliniek Medisch, CTI Vastert, Infection & Immunity, Child Health, Arts-assistenten Kinderen, Jeyaratnam, J., ter Haar, N., Lachmann, H., Simon, A., Brogan, P., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Frenkel, J., and Gattorno, M.

Published
2015

167. 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

168. Development and validation of juvenile autoinflammatory disease multidimensional assessment report (JAIMAR)

Author

Arts-assistenten Kinderen, Child Health, Konukbay, D., Yildiz, D., Acikel, C., Sozeri, B., Makay, B., Ayaz, N. A., Barut, K., Kisaarslan, A., Bilginer, Y., Peru, H., Erdogan, O., Unsal, E., Kasapcopur, O., Gunduz, Z., Ravelli, A., Kone-Paut, I., Frenkel, J., Gattorno, M., Ozen, S., Demirkaya, E., Arts-assistenten Kinderen, Child Health, Konukbay, D., Yildiz, D., Acikel, C., Sozeri, B., Makay, B., Ayaz, N. A., Barut, K., Kisaarslan, A., Bilginer, Y., Peru, H., Erdogan, O., Unsal, E., Kasapcopur, O., Gunduz, Z., Ravelli, A., Kone-Paut, I., Frenkel, J., Gattorno, M., Ozen, S., and Demirkaya, E.

Published
2015

169. The phenotypic variability of PAPA syndrome: Evidence from the Eurofever Registry

Author

Arts-assistenten Kinderen, Child Health, Caorsi, R., Marotto, D., Insalaco, A., Marzano, A., Frenkel, J., Martini, A., De Benedetti, F., Gattorno, M., Arts-assistenten Kinderen, Child Health, Caorsi, R., Marotto, D., Insalaco, A., Marzano, A., Frenkel, J., Martini, A., De Benedetti, F., and Gattorno, M.

Published
2015

170. Cost-effectiveness analysis and prevention effects of ultra-orphan drugs for rare diseases: An in silico model applied to Cryopyrin Associated Periodic Syndromes (CAPS)

Author

Arts-assistenten Kinderen, Child Health, Trieste, L., Della Casa Alberighi, O., Turchetti, G., Pierotti, F., Accame, L., Lorenzoni, V., Frenkel, J., Gattorno, M., Quartier, P., Martini, A., Arts-assistenten Kinderen, Child Health, Trieste, L., Della Casa Alberighi, O., Turchetti, G., Pierotti, F., Accame, L., Lorenzoni, V., Frenkel, J., Gattorno, M., Quartier, P., and Martini, A.

Published
2015

172. How experts on Autoinflammatory diseases classify Periodic Fever, Aphthous stomatitis, Pharyngitis and Cervical Adenitis (PFAPA): Preliminary results of the Eurofever Delphi survey

Author

Arts-assistenten Kinderen, Child Health, Vanoni, F., Federici, S., Ozen, S., Frenkel, J., Lachmann, H., Martini, A., Ruperto, N., Gattorno, M., Hofer, M., Arts-assistenten Kinderen, Child Health, Vanoni, F., Federici, S., Ozen, S., Frenkel, J., Lachmann, H., Martini, A., Ruperto, N., Gattorno, M., and Hofer, M.

Published
2015

173. Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry

Author

Child Health, Integrale & Algemene Kindergeneeskunde, Levy, R., Gerard, L., Kuemmerle-Deschner, J., Lachmann, H. J., Kone-Paut, I., Cantarini, L., Woo, P., Naselli, A., Bader-Meunier, B., Insalaco, A., AI-Mayoutl, S. M., Ozen, S., Hofer, M., Frenkel, J., Modesto, C., Nikishina, I., Schwarz, T., Martino, S., Meini, A., Quartier, P., Martini, A., Ruperto, N., Neven, B., Gattorno, M., PRINTO, Eurofever, Child Health, Integrale & Algemene Kindergeneeskunde, Levy, R., Gerard, L., Kuemmerle-Deschner, J., Lachmann, H. J., Kone-Paut, I., Cantarini, L., Woo, P., Naselli, A., Bader-Meunier, B., Insalaco, A., AI-Mayoutl, S. M., Ozen, S., Hofer, M., Frenkel, J., Modesto, C., Nikishina, I., Schwarz, T., Martino, S., Meini, A., Quartier, P., Martini, A., Ruperto, N., Neven, B., Gattorno, M., PRINTO, and Eurofever

Published
2015

174. Validation of relapse risk biomarkers for routine use in patients with juvenile idiopathic arthritis

Author

Rothmund, F, Gerss, J, Ruperto, N, Däbritz, J, Wittkowski, H, Frosch, M, Wulffraat, Nm, Wedderburn, Lr, Holzinger, D, Gohar, F, Vastert, Sj, Brik, R, Deslandre, Cj, Melo Gomes JA, Saad Magalhaes, C, Barcellona, R, Russo, R, Gattorno, M, Martini, Alberto, Roth, J, and Foell, D.

Subjects
Adult, Male, S100 Proteins, S100A12 Protein, Enzyme-Linked Immunosorbent Assay, Arthritis, Juvenile, Risk Factors, Antirheumatic Agents, Secondary Prevention, Calgranulin B, Humans, Calgranulin A, Female, Child, Biomarkers
Abstract

The myeloid-related proteins 8 and 14 (MRP-8/MRP-14) and neutrophil-derived S100A12 are biomarkers of inflammation. They can be used to determine the relapse risk in patients with juvenile idiopathic arthritis (JIA) after stopping antiinflammatory treatment. In this study, we tested the performance of different enzyme-linked immunosorbent assays (ELISAs) in order to validate systems available for routine use.MRP-8/MRP-14 and S100A12 serum concentrations of 188 JIA patients in remission were analyzed. Commercially available test systems were compared to experimental ELISAs established in house. The ability of the assays to identify JIA patients at risk for relapse was analyzed.For MRP-8/MRP-14, the PhiCal Calprotectin and Buhlmann MRP8/14 Calprotectin ELISAs revealed hazard ratios of 2.3 and 2.1, respectively. For S100A12, the CircuLex S100A12/EN-RAGE ELISA revealed a hazard ratio of 3.1. The commercial assays allowed a JIA relapse prediction that was at least comparable to the experimental ELISAs.For the prediction of JIA relapse after stopping medication, the biomarkers MRP-8/MRP-14 and S100A12 can be determined by using assays that are available for routine use. The tested commercial MRP-8/MRP-14 and S100A12 ELISAs showed a performance comparable to well-established experimental ELISA protocols when assay-specific cutoffs for the indication of relapse prediction are thoroughly applied.

Published
2013

176. Validation of pediatric diagnostic criteria in FMF

Author

Demirkaya, E, Ozen, S, Saglam, C, Turker, T, Duzova, A, Woo, P, Konè Paut, I, Doglio, M, Amaryan, G, Frenkel, J, Uziel, Y, Insalaco, A, Cantarini, L, Hofer, M, Boiu, S, Modesto, C, Bryant, A, Rigante, Donato, Papadopoulou Alataki, E, Guillaume Czitrom, S, Ruperto, N, and Gattorno, M.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Autoinflammation
Published
2013

177. Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

Author

De Benedetti, F., Gattorno, M., Anton, J., Ben-Chetrit, E., Frenkel, J., Hoffman, H. M., Kone-Paut, I., Lachmann, H. J., Ozen, S., Simon, A., Zeft, A., Penades, I. Calvo, Moutschen, M., Quartier, P., Kasapcopur, O., Shcherbina, A., Hofer, M., Hashkes, P. J., Van der Hilst, J., and Hara, R.

Abstract

BACKGROUND Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic autoinflammatory diseases characterized by recurrent fever flares. METHODS We randomly assigned patients with genetically confirmed colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, or TRAPS at the time of a flare to receive 150 mg of canakinumab subcutaneously or placebo every 4 weeks. Patients who did not have a resolution of their flare received an add-on injection of 150 mg of canakinumab. The primary outcome was complete response (resolution of flare and no flare until week 16). In the subsequent phase up to week 40, patients who had a complete response underwent a second randomization to receive canakinumab or placebo every 8 weeks. Patients who underwent a second randomization and had a subsequent flare and all other patients received open-label canakinumab. RESULTS At week 16, significantly more patients receiving canakinumab had a complete response than those receiving placebo: 61% vs. 6% of patients with colchicine-resistant familial Mediterranean fever (PcO.OOl), 35% versus 6% of those with mevalonate kinase deficiency (P=0.003), and 45% versus 8% of those with TRAPS (P=0.006). The inclusion of patients whose dose was increased to 300 mg every 4 weeks yielded a complete response in 71% of those with colchicine-resistant familial Mediterranean fever, 57% of those with mevalonate kinase deficiency, and 73% of those with TRAPS. After week 16, an extended dosing regimen (every 8 weeks) maintained disease control in 46% of patients with colchicine-resistant familial Mediterranean fever, 23% of those with mevalonate kinase deficiency, and 53% of those with TRAPS. Among patients who received canakinumab, the most frequently reported adverse events were infections (173.3, 313.5, and 148.0 per 100 patient-years among patients with colchicine-resistant familial Mediterranean fever, those with mevalonate kinase deficiency, and those with TRAPS, respectively), with a few being serious infections (6.6, 13.7, and 0.0 per 100 patient-years). CONCLUSIONS In this trial, canakinumab was effective in controlling and preventing flares in patients with colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, and TRAPS. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
View/download PDF

178. Non-bacterial osteomyelitis

Author

Girschick, H, Schwarz , T., Beck, C., Jansson, A., Schalm , S., Morbach , H., Naselli , A., Koné-Paut, I, Insalaco, A., Nielsen, S., Herlin, Troels, Al-Mayouf , SM, Hofer, M., Quartier , P., Boros, C., Kuemmerle-Deschner, J., Merino, R., Lepore, Laura, Martino, S., Constantin, T., Jelusic-Drasizic, M., Nikishina, I., Gattorno, M., and Ruperto, N.

Published
2012

179. 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
Full Text
View/download PDF

189. B cells characterization in ADA2 Deficiency patients

Author

Schena, F, primary, Volpi, S, additional, Caorsi, R, additional, Pastorino, C, additional, Penco, F, additional, Kalli, F, additional, Omenetti, A, additional, Chiesa, S, additional, Bertoni, A, additional, Picco, P, additional, Filaci, G, additional, Aksentijevich, I, additional, Grossi, A, additional, Ceccherini, I, additional, Martini, A, additional, Traggiai, E, additional, and Gattorno, M, additional

Published
2015
Full Text
View/download PDF

193. Cryopyrin associated periodic syndromes (CAPS): immunological characterization of knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome.

Author

Bertoni, A, primary, Carta, S, additional, Balza, E, additional, Catellani, P, additional, Pellecchia, C, additional, Penco, F, additional, Schena, F, additional, Borghini, S, additional, Trotta, ML, additional, Pastorino, C, additional, Ceccherini, I, additional, Martini, A, additional, Rubartelli, A, additional, Gattorno, M, additional, and Chiesa, S, additional

Published
2015
Full Text
View/download PDF

198. Recruitment of abundant NK cells to the PFAPA tonsils support the crucial role of innate immunity in pathogenesis of PFAPA syndrome

Author

Chiesa, S, primary, Caorsi, R, additional, Ingrosso, I, additional, Bellora, F, additional, Penco, F, additional, Bertoni, A, additional, Pastorino, C, additional, Omenetti, A, additional, Finetti, M, additional, Borghini, S, additional, Sementa, A, additional, D'Agostino, R, additional, Martini, A, additional, and Gattorno, M, additional

Published
2015
Full Text
View/download PDF

199. Long-term efficacy of IL-1 blockers in PAPA patients

Author

Finetti, M, primary, Caorsi, R, additional, Marotto, D, additional, Buoncompagni, A, additional, Omenetti, A, additional, Lattanzi, B, additional, Minoia, F, additional, Picco, P, additional, Jorini, M, additional, Martini, A, additional, and Gattorno, M, additional

Published
2015
Full Text
View/download PDF

200. 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
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results