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101. Serum interleukin 12 concentration in juvenile chronic arthritis

Author: Gattorno, M, Picco, P, Vignola, S, Stalla, F, Buoncompagni, A, and Pistoia, V
Published: 1998

102. Synovial fluid T cell clones from oligoarticular juvenile arthritis patients display a prevalent Th1/Th0-type pattern of cytokine secretion irrespective of immunophenotype

Author: GATTORNO, M., FACCHETTI, P., GHIOTTO, F., VIGNOLA, S., BUONCOMPAGNI, A., PRIGIONE, I., PICCO, P., and PISTOA, V.
Published: 1997

103. Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry

Author: Demirkaya, E., Saglam, C., Turker, T., Kone-Paut, I., Woo, P., Doglio, M., Amaryan, G., Frenkel, J., Uziel, Y., Insalaco, A., Cantarini, L., Hofer, M., Boiu, S., Duzova, A., Modesto, C., Bryant, A., Rigante, D., Papadopoulou-Alataki, E., Guillaume-Czitrom, S., Kuemmerle-Deschner, J., Neven, B., Lachmann, H., Martini, A., Ruperto, N., Gattorno, M., Ozen, S., and Eurofever, Project
Subjects: Male, Pediatrics, Internationality, Familial Mediterranean fever, Severity of Illness Index, Cohort Studies, 0302 clinical medicine, Tel Hashomer criteria, Diagnosis, Immunology and Allergy, Medicine, Yalcinkaya-Ozen criteria, Registries, 030212 general & internal medicine, Child, Non-U.S. Gov't, Children, education.field_of_study, Research Support, Non-U.S. Gov't, Statistics, Pharyngitis, Europe, Periodic fever, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Cohort, Female, medicine.symptom, Cohort study, medicine.medical_specialty, Autoinflammatory diseases, Familial mediterranean fever, Livneh criteria, Chi-Square Distribution, Diagnosis, Differential, Diagnostic Tests, Routine, Familial Mediterranean Fever, Fever, Hereditary Autoinflammatory Diseases, Humans, Retrospective Studies, Statistics, Nonparametric, Immunology, Population, Research Support, 03 medical and health sciences, Diagnostic Tests, Rheumatology, Severity of illness, Journal Article, Routine, Nonparametric, Preschool, education, 030203 arthritis & rheumatology, business.industry, Retrospective cohort study, Adenitis, medicine.disease, Differential, business
Abstract: Objective.Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF).Methods.Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor–associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed.Results.The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity rate of 87.4% and a specificity rate of 40.7%. On the other hand, Tel Hashomer and Livneh criteria displayed a sensitivity of 45.0 and 77.3%, respectively. Both of the latter criteria displayed a better specificity than the Yalcinkaya-Ozen criteria: 97.2 and 41.1% for the Tel Hashomer and Livneh criteria, respectively. The overall accuracy for the Yalcinkaya-Ozen criteria was 65 and 69.6% (using 2 and 3 criteria), respectively. Ethnicity and residence had no effect on the performance of the Yalcinkaya-Ozen criteria.Conclusion.The Yalcinkaya-Ozen criteria yielded a better sensitivity than the other criteria in this international cohort of patients and thus can be used as a tool for FMF diagnosis in pediatric patients from either the European or eastern Mediterranean region. However, the specificity was lower than the previously suggested adult criteria.
Published: 2015
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104. Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases

Author: Rusmini, M., Federici, S., Caroli, F., Gattorno, M., Ceccherini, I., OLIVIERI, Alma Nunzia, Rusmini, M., Federici, S., Caroli, F., Gattorno, M., Ceccherini, I., and Olivieri, Alma Nunzia
Published: 2016

105. The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

Author: Haar, N. Ter, Jeyaratnam, J., Lachmann, H.J., Simon, A., Brogan, P.A., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E.P., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, D., Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., Gattorno, M., ter Haar, N. M., Jeyaratnam, J., Lachmann, H. J., Simon, A., Brogan, P. A., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, D., Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., and Gattorno, M.
Subjects: Diarrhea, Male, Adolescent, Genotype, Vomiting, Immunology, Lymphadenopathy, Mevalonic Aciduria, Eurofever Project, Hereditary Autoinflammatory Disease, Hyper IgD syndrome, Mevalonate Kinase Deficiency, Mevalonic Aciduria, Skin Diseases, Uveitis, Rheumatology, Cerebellar Diseases, Intellectual Disability, Journal Article, Immunology and Allergy, Humans, Registries, Hyper IgD syndrome, Age of Onset, Child, Preschool, Eurofever Project, Retrospective Studies, Stomatitis, Arthritis, Infant, Newborn, Headache, Infant, Pharyngitis, Amyloidosis, Myalgia, Aphthous, Conjunctivitis, Newborn, Arthralgia, Hereditary Autoinflammatory Disease, Abdominal Pain, Phosphotransferases (Alcohol Group Acceptor), Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Stomatitis, Aphthous, Female, Mevalonate Kinase Deficiency, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]
Abstract: OBJECTIVE: Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment in an international cohort of MKD patients. METHODS: All MKD cases were extracted from the Eurofever registry (Executive Agency for Health and Consumers project no. 2007332), an international, multicenter registry that retrospectively collects data on children and adults with autoinflammatory diseases. RESULTS: The study included 114 MKD patients. The median age at onset was 0.5 years. Patients had on average 12 episodes per year. Most patients had gastrointestinal symptoms (n = 112), mucocutaneous involvement (n = 99), lymphadenopathy (n = 102), or musculoskeletal symptoms (n = 89). Neurologic symptoms included headache (n = 43), cerebellar syndrome (n = 2), and mental retardation (n = 4). AA amyloidosis was noted in 5 patients, almost twice as many as expected from findings in previous cohorts. Macrophage activation syndrome occurred in 1 patient. Patients were generally well between attacks, but 10-20% of the patients had constitutional symptoms, such as fatigue, between fever episodes. Patients with p.V377I/p.I268T compound heterozygosity had AA amyloidosis significantly more often. Patients without a p.V377I mutation more often had severe musculoskeletal involvement. Treatment with nonsteroidal antiinflammatory drugs relieved symptoms. Steroids given during attacks, anakinra, and etanercept appeared to improve symptoms and could induce complete remission in patients with MKD. CONCLUSION: We describe the clinical and genetic characteristics of 114 MKD patients, which is the largest cohort studied so far. The clinical manifestations confirm earlier reports. However, the prevalence of AA amyloidosis is far higher than expected.
Published: 2016

106. Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes

Author: Benedetti, F. De, Gattorno, M., Anton, J., Ben-Chetrit, E., Frenkel, J., Hoffman, H.M., Simon, A., Speziale, A., Junge, G., Benedetti, F. De, Gattorno, M., Anton, J., Ben-Chetrit, E., Frenkel, J., Hoffman, H.M., Simon, A., Speziale, A., and Junge, G.
Abstract: Item does not contain fulltext
Published: 2018

107. 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

108. Correction: A national cohort study on pediatric Behçet's disease: Cross-sectional data from an Italian registry [Pediatr Rheumatol., 15, (2017) (84)] DOI: 10.1186/s12969-017-0213-x

Author: Gallizzi, R., Pidone, C., Cantarini, L., Finetti, M., Cattalini, M., Filocamo, G., Insalaco, A., Rigante, D., Consolini, R., Maggio, M. C., Civino, A., Martino, S., Olivieri, A. N., Fabio, G., Pastore, S., Mauro, A., Sutera, D., Trimarchi, G., Ruperto, N., Gattorno, M., Cimaz, R., Rigante D. (ORCID:0000-0001-7032-7779), Gallizzi, R., Pidone, C., Cantarini, L., Finetti, M., Cattalini, M., Filocamo, G., Insalaco, A., Rigante, D., Consolini, R., Maggio, M. C., Civino, A., Martino, S., Olivieri, A. N., Fabio, G., Pastore, S., Mauro, A., Sutera, D., Trimarchi, G., Ruperto, N., Gattorno, M., Cimaz, R., and Rigante D. (ORCID:0000-0001-7032-7779)
Abstract: Following publication of the original article [1], the authors reported that the names of two institutional authors - EUROFEVER and the Paediatric Rheumatology International Trials Organisation (PRINTO) - had been unintentionally omitted in the final online version of the manuscript. The corrected author list is shown in this Correction.
Published: 2018

109. 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

110. Updated overview of molecular pathways involved in the most common monogenic autoinflammatory diseases

Author: Lucherini, Om, Rigante, Donato, Sota, J, Fabiani, C, Obici, L, Cattalini, M, Gattorno, M, Cantarini, L, Rigante D (ORCID:0000-0001-7032-7779), Lucherini, Om, Rigante, Donato, Sota, J, Fabiani, C, Obici, L, Cattalini, M, Gattorno, M, Cantarini, L, and Rigante D (ORCID:0000-0001-7032-7779)
Abstract: An apparently unprovoked recurrent inflammation is the quintessential hallmark of autoinflammatory diseases (AIDs), a large and heterogeneous group of disorders in which there is poor regulation of the innate immune system with no clearly demonstrated autoimmune machinery involvement. Innate immunity pathways are diverse and our understanding of their molecular composition and function is continuously expanding. The impaired immune responses we observe in monogenic AIDs, mostly in the hereditary periodic fever syndromes, is officiated by target molecules of microbial origin (pathogen-associated molecular patterns) and also host molecules (danger-associated molecular patterns). Further crucial components of innate immune mechanisms that contribute differently in the deregulated inflammatory patterns of different AIDs include Toll-like receptors, Nod-like receptors, scaffolding proteins (such as the caspase recruitment domain of proteins), cytosolic DNA-sensing molecules, inflammatory multi-protein complexes (referred to as inflammasomes), complement system, and others. In recent years, the knowledge of protean molecular pathways responsible for the most common monogenic AIDs has expanded, in parallel with very recent extraordinary technological advances, allowing the identification and characterisation of some unknown aspects of the innate immunity. This review will list and describe the most common monogenic febrile syndromes belonging to AIDs and will focus on current insights dealing with their pathologic processes.
Published: 2018

111. A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

Author: Papa, R. Doglio, M. Lachmann, H.J. Ozen, S. Frenkel, J. Simon, A. Neven, B. Kuemmerle-Deschner, J. Ozgodan, H. Caorsi, R. Federici, S. Finetti, M. Trachana, M. Brunner, J. Bezrodnik, L. Pinedo Gago, M.C. Maggio, M.C. Tsitsami, E. Al Suwairi, W. Espada, G. Shcherbina, A. Aksu, G. Ruperto, N. Martini, A. Ceccherini, I. Gattorno, M.
Abstract: Background: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database (http://fmf.igh.cnrs.fr/ISSAID/infevers) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation. The aim of this study is to develop a registry of genotype-phenotype associations observed in patients with HRF, enrolled and validated in the Eurofever registry. Results: Genotype-phenotype associations observed in all the patients with HRF enrolled in the Eurofever registry were retrospectively analyzed. For autosomal dominant diseases (CAPS and TRAPS), all mutations were individually analyzed. For autosomal recessive diseases (FMF and MKD), homozygous and heterozygous combinations were described. Mean age of onset, disease course (recurrent or chronic), mean duration of fever episodes, clinical manifestations associated with fever episodes, atypical manifestations, complications and response to treatment were also studied. Data observed in 751 patients (346 FMF, 133 CAPS, 114 MKD, 158 TRAPS) included in the Eurofever registry and validated by experts were summarized in Tables. A total of 149 variants were described: 46 TNFRSF1A and 27 NLRP3 variants, as well as various combinations of 48 MVK and 28 MEFV variants were available. Conclusions: We provide a potentially useful tool for physicians dealing with HRF, namely a registry of genotype-phenotype associations for patients enrolled in the Eurofever registry. This tool is complementary to the Infevers database and will be available at the Eurofever and Infevers websites. © 2017 The Author(s).
Published: 2017

112. The Eurofever project: an update on the longitudinal stage

Author: Finetti, M, Federici, S, Frenkel, J, Ozen, S, Lachmann, H, De Benedetti, F, Swart, J, Cantarini, L, Gallizzi, R, Cattalini, M, Cimaz, R, Rigante, Donato, Anton, J, Alessio, M, Olivieri, An, Dolezalova, P, Jansson, A, Fabio, G, Sanchez Manubens, J, Hachulla, E, Consolini, R, Krause, K, Ekinci, Z, Brunner, J, Koné-Paut, I, Filocamo, G, Pinedo, Mdc, Papadopoulou-Alataki, E, Bezrodnik, L, Martini, A, Ruperto, N, and Gattorno, M.
Subjects: Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Hereditary periodic fever
Published: 2017

113. Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

Author: Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg AM, Wedderburn LR, Anton-Lopez J, Haas JP, Rosen-Wolff A, Minden K, Tenbrock K, Demirkaya E, Cobb J, Baskin E, Signa S, Shuldiner E, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A, British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, In, Langefeld CD, Thompson S, Zeggini E, Kastner DL, Woo P, and Thomson W
Subjects: musculoskeletal diseases, genetic structures, Gene Polymorphism, Juvenile Idiopathic Arthritis, Adult Onset Still's Disease
Abstract: OBJECTIVES: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of conditions unified by the presence of chronic childhood arthritis without an identifiable cause. Systemic JIA (sJIA) is a rare form of JIA characterised by systemic inflammation. sJIA is distinguished from other forms of JIA by unique clinical features and treatment responses that are similar to autoinflammatory diseases. However, approximately half of children with sJIA develop destructive, long-standing arthritis that appears similar to other forms of JIA. Using genomic approaches, we sought to gain novel insights into the pathophysiology of sJIA and its relationship with other forms of JIA. METHODS: We performed a genome-wide association study of 770 children with sJIA collected in nine countries by the International Childhood Arthritis Genetics Consortium. Single nucleotide polymorphisms were tested for association with sJIA. Weighted genetic risk scores were used to compare the genetic architecture of sJIA with other JIA subtypes. RESULTS: The major histocompatibility complex locus and a locus on chromosome 1 each showed association with sJIA exceeding the threshold for genome-wide significance, while 23 other novel loci were suggestive of association with sJIA. Using a combination of genetic and statistical approaches, we found no evidence of shared genetic architecture between sJIA and other common JIA subtypes. CONCLUSIONS: The lack of shared genetic risk factors between sJIA and other JIA subtypes supports the hypothesis that sJIA is a unique disease process and argues for a different classification framework. Research to improve sJIA therapy should target its unique genetics and specific pathophysiological pathways.
Published: 2017

114. 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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115. THU0570 Long-term efficacy and safety of canakinumab in patients with colchicine-resistant fmf (CRFMF), traps and hids/mkd: results from the pivotal phase 3 cluster trial

Author: De Benedetti, F., primary, Frenkel, J., additional, Simon, A., additional, Anton, J., additional, Lachmann, H., additional, Gattorno, M., additional, Ozen, S., additional, Kone-Paut, I., additional, Ben-Chetrit, E., additional, Wozniak, M.B., additional, Wang, J.G., additional, and Vritzali, E., additional
Published: 2018
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116. THU0030 Molecular mechanisms of autophagic memory in pathogenic t cells in human rheumatoid arthritis

Author: Kumar, P., primary, Leong, J.Y., additional, Saidin, S., additional, Paleja, B., additional, Loosdregt, J.V., additional, Chua, C., additional, Arkachaisri, T., additional, Consolaro, A., additional, Gattorno, M., additional, Martini, A., additional, Williams, G.W., additional, Pischel, K.D, additional, Lotz, M., additional, and Albani, S., additional
Published: 2018
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117. 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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118. A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

Author: Papa, R., Doglio, M., Lachmann, H.J., Ozen, S., Frenkel, J., Simon, A., Neven, B., Kuemmerle-Deschner, J., Ozgodan, H., Caorsi, R., Federici, S., Finetti, M., Trachana, M., Brunner, J., Bezrodnik, L., Pinedo Gago, M.C., Maggio, M.C., Tsitsami, E., Suwairi, W. Al, Espada, G., Shcherbina, A., Aksu, G., Ruperto, N., Martini, A., Ceccherini, I., Gattorno, M., Papa, R., Doglio, M., Lachmann, H.J., Ozen, S., Frenkel, J., Simon, A., Neven, B., Kuemmerle-Deschner, J., Ozgodan, H., Caorsi, R., Federici, S., Finetti, M., Trachana, M., Brunner, J., Bezrodnik, L., Pinedo Gago, M.C., Maggio, M.C., Tsitsami, E., Suwairi, W. Al, Espada, G., Shcherbina, A., Aksu, G., Ruperto, N., Martini, A., Ceccherini, I., and Gattorno, M.
Abstract: Contains fulltext : 181711.pdf (publisher's version ) (Open Access), BACKGROUND: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.igh.cnrs.fr/ISSAID/infevers ) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation. The aim of this study is to develop a registry of genotype-phenotype associations observed in patients with HRF, enrolled and validated in the Eurofever registry. RESULTS: Genotype-phenotype associations observed in all the patients with HRF enrolled in the Eurofever registry were retrospectively analyzed. For autosomal dominant diseases (CAPS and TRAPS), all mutations were individually analyzed. For autosomal recessive diseases (FMF and MKD), homozygous and heterozygous combinations were described. Mean age of onset, disease course (recurrent or chronic), mean duration of fever episodes, clinical manifestations associated with fever episodes, atypical manifestations, complications and response to treatment were also studied. Data observed in 751 patients (346 FMF, 133 CAPS, 114 MKD, 158 TRAPS) included in the Eurofever registry and validated by experts were summarized in Tables. A total of 149 variants were described: 46 TNFRSF1A and 27 NLRP3 variants, as well as various combinations of 48 MVK and 28 MEFV variants were available. CONCLUSIONS: We provide a potentially useful tool for physicians dealing with HRF, namely a registry of genotype-phenotype associations for patients enrolled in the Eurofever registry. This tool is complementary to the Infevers database and will be available at the Eurofever and Infevers websites.
Published: 2017

119. 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

120. Concurrent Oral 1 - Therapy of rheumatic disease: OP4. Effectiveness of Rituximab in Rheumatoid Arthritis: Results from the British Society for Rheumatology Biologics Register (BSRBR)

Author: Soliman, Moetaza M., Ashcroft, Darren M., Watson, Kath D., Lunt, Mark, Symmons, Deborah, Hyrich, Kimme L., Lachmann, H. J., Quartier, P., Hachulla, E., Gattorno, M., Cartwright, R., Kone-Paut, I., Zulian, F., Weisbarth-Riedel, E., Lepore, L., Hoyer, J., Foeldvari, I., Ramos, E., Leslie, K., Krammer, G., Preiss, R., Incera, E., Kuemmerle-Deschner, J. B., Hawkins, P. N., So, Alexander, De Meulemeester, M., Pikhlak, A., Yücel, A. E., Bodalia, B., Kerrane, J., Arulmani, U., Richard, D., Murphy, V., Sallstig, P., Schlesinger, N., Christidis, Dimitrios, Hassan, Nada, Mapplebeck, Sarah, Dasgupta, Bhaskar, Genovese, Mark C., Sebba, Anthony, Rubbert-Roth, Andrea, Scali, Juan, Zilberstein, Moshe, 's Vernon, Emma, Vollenhoven, Ronald, Choy, Ernest, White-Alao, Beverley, Ibrahim, Fowzia, Kowalczyk, Anna, Gordon, Patrick, Hakim, Alan, Kitas, George, Isenberg, David, Griffiths, Bridget, Lecky, Bryan, Chakravarty, Kuntal, Winer, John, Danko, Katalin, Cooper, Robert G., Scott, David L., Soliman, Moetaza M., Ashcroft, Darren M., Watson, Kath D., Lunt, Mark, Symmons, Deborah, Hyrich, Kimme L., Lachmann, H. J., Quartier, P., Hachulla, E., Gattorno, M., Cartwright, R., Kone-Paut, I., Zulian, F., Weisbarth-Riedel, E., Lepore, L., Hoyer, J., Foeldvari, I., Ramos, E., Leslie, K., Krammer, G., Preiss, R., Incera, E., Kuemmerle-Deschner, J. B., Hawkins, P. N., So, Alexander, De Meulemeester, M., Pikhlak, A., Yücel, A. E., Bodalia, B., Kerrane, J., Arulmani, U., Richard, D., Murphy, V., Sallstig, P., Schlesinger, N., Christidis, Dimitrios, Hassan, Nada, Mapplebeck, Sarah, Dasgupta, Bhaskar, Genovese, Mark C., Sebba, Anthony, Rubbert-Roth, Andrea, Scali, Juan, Zilberstein, Moshe, 's Vernon, Emma, Vollenhoven, Ronald, Choy, Ernest, White-Alao, Beverley, Ibrahim, Fowzia, Kowalczyk, Anna, Gordon, Patrick, Hakim, Alan, Kitas, George, Isenberg, David, Griffiths, Bridget, Lecky, Bryan, Chakravarty, Kuntal, Winer, John, Danko, Katalin, Cooper, Robert G., and Scott, David L.
Abstract: Background: Rituximab (RTX) in combination with methotrexate (MTX) has been licensed since 2006 for the management of severe active rheumatoid arthritis (RA) in patients who have failed at least one anti-tumour necrosis factor (anti-TNF) therapy. Published clinical trials have demonstrated the efficacy of RTX in improving both clinical symptoms and patients' physical function. This study aimed to assess the effectiveness of RTX in RA patients treated in routine clinical practice by examining clinical and patient reported outcomes six months after receiving a first course of RTX. Methods: The analysis involved 550 RA patients registered with the BSRBR, who were starting RTX and were followed up for at least 6 months. Change in Disease Activity Score (DAS28) and European League Against Rheumatism (EULAR) response were used to assess the clinical response while change in Health Assessment Questionnaire (HAQ) score was used to assess the physical function of the patients 6 months after starting RTX. The change in DAS28 and HAQ was compared between seronegative and seropositive patients and anti-TNF naïve patients versus anti-TNF failures. The response was also compared between patients receiving RTX in combination with MTX, other non-biologic disease modifying anti-rheumatic drugs (nbDMARDs) or no nbDMARDs. Results: The mean (s.d.) age of the cohort was 59 (12) years and 78% of the patients were females. The patients had a mean (s.d.) of 15 (10) years of disease duration. 16% were biologic naïve while 84% were anti-TNF failures. 32% of the patients were seronegative and 68% were seropositive. The mean (95% CI) DAS28 at baseline was 6.2 (6.1, 6.3) which decreased to 4.8 (4.7, 4.9) at 6 months of follow up. 16% were EULAR good responders, 43% were moderate responders and 41% were non responders. The mean (95% CI) change in HAQ was −0.1 (−0.2, −0.1) (Table 1). The mean change in DAS28 was similar in seropositive and seronegative patients (p = 0.18) while the anti-TNF naïve
Published: 2017

121. 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

122. Intra-articular corticosteroids versus intra-articular corticosteroids plus methotrexate in oligoarticular juvenile idiopathic arthritis: a multicentre, prospective, randomised, open-label trial

Author: Ravelli, A, Davì, S, Bracciolini, G, Pistorio, A, Consolaro, A, van Dijkhuizen, Ehp, Lattanzi, B, Filocamo, G, Verazza, S, Gerloni, V, Gattinara, M, Pontikaki, I, Insalaco, A, De Benedetti, F, Civino, A, Presta, G, Breda, L, Marzetti, V, Pastore, S, Magni Manzoni, S, Maggio, Mc, Garofalo, F, Rigante, Donato, Gattorno, M, Malattia, C, Picco, P, Viola, S, Lanni, S, Ruperto, N, Martini, A., Rigante, Donato (ORCID:0000-0001-7032-7779), Ravelli, A, Davì, S, Bracciolini, G, Pistorio, A, Consolaro, A, van Dijkhuizen, Ehp, Lattanzi, B, Filocamo, G, Verazza, S, Gerloni, V, Gattinara, M, Pontikaki, I, Insalaco, A, De Benedetti, F, Civino, A, Presta, G, Breda, L, Marzetti, V, Pastore, S, Magni Manzoni, S, Maggio, Mc, Garofalo, F, Rigante, Donato, Gattorno, M, Malattia, C, Picco, P, Viola, S, Lanni, S, Ruperto, N, Martini, A., and Rigante, Donato (ORCID:0000-0001-7032-7779)
Abstract: BACKGROUND: Little evidence-based information is available to guide the treatment of oligoarticular juvenile idiopathic arthritis. We aimed to investigate whether oral methotrexate increases the efficacy of intra-articular corticosteroid therapy. METHODS: We did this prospective, open-label, randomised trial at ten hospitals in Italy. Using a concealed computer-generated list, children younger than 18 years with oligoarticular-onset disease were randomly assigned (1:1) to intra-articular corticosteroids alone or in combination with oral methotrexate (15 mg/m2; maximum 20 mg). Corticosteroids used were triamcinolone hexacetonide (shoulder, elbow, wrist, knee, and tibiotalar joints) or methylprednisolone acetate (ie, subtalar and tarsal joints). We did not mask patients or investigators to treatment assignments. Our primary outcome was the proportion of patients in the intention-to-treat population who had remission of arthritis in all injected joints at 12 months. This trial is registered with European Union Clinical Trials Register, EudraCT number 2008-006741-70. FINDINGS: Between July 7, 2009, and March 31, 2013, we screened 226 participants and randomly assigned 102 to intra-articular corticosteroids alone and 105 to intra-articular corticosteroids plus methotrexate. 33 (32%) patients assigned to intra-articular corticosteroids alone and 39 (37%) assigned to intra-articular corticosteroids and methotrexate therapy had remission of arthritis in all injected joints (p=0·48). Adverse events were recorded for 20 (17%) patients who received methotrexate, which led to permanent treatment discontinuation in two patients (one due to increased liver transaminases and one due to gastrointestinal discomfort). No patient had a serious adverse event. INTERPRETATION: Concomitant administration of methotrexate did not augment the effectiveness of intra-articular corticosteroid therapy. Future studies are needed to define the optimal therapeutic strategies for oligoarticular juve
Published: 2017

123. 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

124. Clinical features and follow-up in patients with 22q11.2 deletion syndrome

Author: Cancrini, C, Puliafito, P, Digilio, M, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, E, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, A, Pietrogrande, M, Marino, B, Ugazio, A, Plebani, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, M, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, R, Cossu, F, Del Giacco, S, Manconi, P, Consarino, C, Dello Russo, A, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, R, Panisi, C, Fabio, G, Carrabba, M, Roncarolo, M, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, P, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D, Cancrini, C, Puliafito, P, Digilio, Mc, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, Em, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, Alessandro, Pietrogrande, Mc, Marino, B, Ugazio, Ag, Plebani, A, Rossi, P., Cancrini, Caterina, Puliafito, Pamela, Digilio, Maria Cristina, Soresina, Annarosa, Martino, Silvana, Rondelli, Roberto, Consolini, Rita, Ruga, Ezia Maria, Cardinale, Fabio, Finocchi, Andrea, Romiti, Maria Luisa, Martire, Baldassarre, Bacchetta, Rosa, Albano, Veronica, Carotti, Adriano, Specchia, Fernando, Montin, Davide, Cirillo, Emilia, Cocchi, Guido, Trizzino, Antonino, Bossi, Grazia, Milanesi, Ornella, Azzari, Chiara, Corsello, Giovanni, Pignata, Claudio, Pietrogrande, Maria Cristina, Marino, Bruno, Ugazio, Alberto Giovanni, Plebani, Alessandro, Rossi, Paolo, Aiuti, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, Mg, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, Rm, Cossu, F, Del Giacco, S, Manconi, Pe, Consarino, C, Dello Russo, Am, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, Rm, Panisi, C, Fabio, G, Carrabba, M, Pietrogrande, M, Roncarolo, Mg, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, Paolo, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D., Cancrini, C., Pulisfito, P., Digilio, M. C., Soresina, A., Martino, S., Rondelli, R., Consolini, R., Ruga, E. M., C. a. r. d. i. n. a. l. e., F., Finocchi, A., Romiti, M. L., Martire, B., Bacchetta, R., Albano, V., Carotti, A., Specchia, F., Montin, D., Cocchi, G., Trizzino, A., Bossi, G., Milanesi, O., Azzari, C., Corsello, G., Aiuti, A., Pietrogrande, M. C., Marino, B., Ugazio, A. G., Plebani, A., Digilio, MC, Ruga, EM, Romiti, ML, trizzino, A, Aiuti, Pietrogrande, MC, and Ugazio, AG
Subjects: Male, Pediatrics, 22q11.2 deletion, Delayed Diagnosis, Time Factors, Chromosomes, Human, Pair 22, Developmental Disabilities, digeorge syndrome, Sex Factor, Severity of Illness Index, Retrospective Studie, DiGeorge syndrome, Early Diagnosi, Age Factor, Prospective Studies, Neonatal hypocalcemia, Prospective cohort study, Child, medicine.diagnostic_test, Delayed Diagnosi, Primary immune disorders, Age Factors, del 22q, MIM, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, DiGeorge Syndrome, Early Diagnosis, Female, Follow-Up Studies, Genetic Testing, Humans, Infant, Infant, Newborn, Monitoring, Physiologic, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Disease Progression, Cohort, Abnormalities, Multiple, Pediatrics, Perinatology and Child Health, Human, medicine.medical_specialty, Time Factor, Monitoring, Developmental Disabilitie, Italian Association of Pediatric Haematology and Oncology, Context (language use), Chromosomes, Follow-Up Studie, Severity of illness, medicine, 22q11DS, 22q11.2 deletion syndrome, AIEOP, Mendelian Inheritance in Man, Preschool, Physiologic, Genetic testing, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Retrospective cohort study, medicine.disease, Newborn, Prospective Studie, Pair 22, business
Abstract: Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations ( P = .015) and speech disorders ( P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.
Published: 2014

125. Type I interferonopathies in pediatric rheumatology

Author: Volpi, S., Picco, P., Caorsi, R., Candotti, F., and Gattorno, M.
Subjects: Aortic Diseases/genetics, Aortic Diseases/immunology, Arthritis, Juvenile/diagnosis, Arthritis, Juvenile/immunology, Autoimmune Diseases/diagnosis, Autoimmune Diseases/genetics, Autoimmune Diseases/immunology, Autoimmune Diseases/therapy, Autoimmune Diseases of the Nervous System/diagnosis, Autoimmune Diseases of the Nervous System/immunology, Dental Enamel Hypoplasia/genetics, Dental Enamel Hypoplasia/immunology, Homozygote, Humans, Interferon Type I/genetics, Interferon Type I/immunology, Lupus Erythematosus, Systemic/diagnosis, Lupus Erythematosus, Systemic/genetics, Lupus Erythematosus, Systemic/immunology, Metacarpus/abnormalities, Metacarpus/immunology, Muscular Diseases/genetics, Muscular Diseases/immunology, Mutation/genetics, Mutation/immunology, Nervous System Malformations/diagnosis, Nervous System Malformations/immunology, Odontodysplasia/genetics, Odontodysplasia/immunology, Osteochondrodysplasias/genetics, Osteochondrodysplasias/immunology, Osteoporosis/genetics, Osteoporosis/immunology, Proteome/genetics, Proteome/immunology, Rare Diseases/diagnosis, Rare Diseases/immunology, Rare Diseases/therapy, Signal Transduction, Vascular Calcification/genetics, Vascular Calcification/immunology
Abstract: Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common. Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis. As observed for IL1-β and autoinflammatory diseases, knowledge of the defects responsible for type I interferonopathies will likely promote the development of targeted therapy.
Published: 2016

126. OP0063 Canakinumab treatment in patients with colchicine-resistant FMF (CRFMF), HIDS/MKD and traps: efficacy in the 16 weeks randomised controlled phase and maintenance of disease control and safety at week 40

Author: Benedetti, F De, primary, Gattorno, M, additional, Frenkel, J, additional, Calvo, I, additional, Moutschen, M, additional, Quartier, P, additional, Kasapcopur, O, additional, Ozen, S, additional, Gül, A, additional, Anton, J, additional, Koné-Paut, I, additional, Lachmann, H, additional, Hoffman, HM, additional, Ben-Chetrit, E, additional, Zeft, A, additional, Gong, Y, additional, Vritzali, E, additional, and Junge, G, additional
Published: 2017
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127. THU0509 Improvement of disease activity in patients with colchicine-resistant FMF, HIDS/MKD and traps assessed by autoinflammatory disease activity index (AIDAI): results from the cluster trial

Author: Kone-Paut, I, primary, Piram, M, additional, Benseler, S, additional, Hofer, M, additional, Lachmann, H, additional, Hoffman, HM, additional, Gattorno, M, additional, Frenkel, J, additional, Kuemmerle-Deschner, JB, additional, Ozen, S, additional, Levy, J, additional, Karyekar, CS, additional, and Benedetti, F De, additional
Published: 2017
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128. Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis)

Author: Marzano, A.V., primary, Damiani, G., additional, Ceccherini, I., additional, Berti, E., additional, Gattorno, M., additional, and Cugno, M., additional
Published: 2017
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129. Neonatal lupus and a seronegative mother

Author: Gattorno, M., Di Rocco, M., Buoncompagni, A., Picco, P., Meroni, PL, and Martini, A.
Published: 2004

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

Author: DEMİRKAYA, ERKAN, PERU, HARUN, BİLGİNER, YELDA, BARUT, KENAN, MAKAY, BALAHAN, AÇIKEL, C, KONUKBAY, D, GATTORNO, M, KONE-PAUT, I, RAVELLİ, A, ÜNSAL, ERBİL, ÖZEN, SEZA, KASAPÇOPUR, ÖZGÜR, ERDOĞAN, O, GÜNDÜZ, Zübeyde, YILDIZ, Deniz Nur, SÖZERİ, Betül, and PAÇ KISAARSLAN, Ayşenur
Published: 2015

131. NAILFOLD CAPILLAROSCOPY IN DEFICIENCY OF ADENOSINE DEAMINASE 2 (DADA2): A CASECONTROL STUDY.

Author: Bica, P. F., Matucci-Cerinic, C., Hysa, E., Cere, A., Gotelli, E., Volpi, S., Caorsi, R., Sulli, A., Pizzorni, C., Paolino, S., Cutolo, M., and Gattorno, M.
Published: 2023
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132. REAL LIFE DATA ON TAPERING AND DISCONTINUATION OF ANAKINRA TREATMENT IN RECURRENT PERICARDITIS: AN INTERNATIONAL REGISTRY.

Author: Malandrino, D., Bettiol, A., Mattioli, I., Andreis, A., Cantarini, L., Dagna, L., De Biasio, M., Gattorno, M., Marcolongo, R., Tavoni, A., Sicignano, L. L., De Benedetti, F., Insalaco, A., Lopalco, G., Caforio, A. L. P., Manna, R., Perna, F., Simonini, G., Maestroni, S., and Bello, F.
Published: 2023
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133. DYNAMIC INTERPLAY OF FUNCTIONALLY DISCORDANT CD4+HLA-DR+ SUBSETS WITH A COMMON PATHOLOGICAL ONTOGENIC ORIGIN IN HUMAN ARTHRITIS.

Author: Leong, J. Y., Kumar, P., Lim, A. J. M., Tay, S. H., Hazirah, S., Yeo, J. G., Chua, C., Chen, P., Lajam, A. M., Consolaro, A., Gattorno, M., Ng, C. T., Arkachaisri, T., Martini, A., and Albani, S.
Published: 2023
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134. INSIGHTS FROM A NOVEL MONOGENIC AUTOIMMUNE DISEASE: OVERVIEW OF A MULTICENTRIC EUROPEAN COHORT OF 27 PATIENTS WITH COPA SYNDROME.

Author: David-Gabarre, C., Bader-Meunier, B., Belot, A., Labouret, G., Brennan, M., Al-Abadi, E., Arkwright, P., Newman, W., Gattorno, M., Stefano, V., Tommasini, A., Manna, R., Taddio, A., Lopez-Montesinos, B., Poch, T. Clavaguera, Mensa, A., Boulisfane, S., Thumerelle, C., Cadranel, J., and Maurier, F.
Published: 2023
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135. Development of the autoinflammatory disease damage index (ADDI)

Author: The EUROFEVER participants, Annink, K, ter Haar, N, Gattorno, M, Lachmann, H, Kuemmerle-Deschner, J, Ozen, Seza, Goldbach-Mansky, R, Durrant, K, Alberighi, O Della Casa, Frenkel, J, and Çocuk Sağlığı ve Hastalıkları
Subjects: medicine.medical_specialty, Pathology, Mevalonate kinase deficiency, business.industry, Cryopyrin-associated periodic syndrome, Familial Mediterranean fever, Inflammation, Context (language use), medicine.disease, Systemic inflammation, Rheumatology, Internal medicine, Poster Presentation, Pediatrics, Perinatology and Child Health, Immunology, medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, Autoinflammatory disease, medicine.symptom, business
Abstract: Autoinflammatory diseases cause systemic inflammation which can result in damage to multiple organs. Organ damage can occur before the start of therapy, or when patients experience ongoing inflammation. A validated instrument to measure damage is essential to quantify damage in individual patients, and to compare disease outcomes in clinical studies. At this moment, there is no such instrument. In the context of the RaDiCEA project, a common damage index for Familial Mediterranean Fever (FMF), Cryopyrin Associated Periodic Syndromes (CAPS), Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) and Mevalonate Kinase Deficiency (MKD) will be developed.
Published: 2015
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136. HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

Author: Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton-Lopez J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A, British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, Childhood Arthritis Prospective Study (CAPS) Group, Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators, Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group, Biologically Based Outcome Predictors in JIA (BBOP) Group, de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P, International Childhood Arthritis Genetics (INCHARGE) Consortium, and British Society of Pediatric and Adolescent Rheumatology BSPAR Study Group
Published: 2015

137. Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS)

Author: Signa, S, Bianchi, L, Rusmini, M, Campione, E, Gueli, I, Grossi, A, Omenetti, A, Martini, A, Ceccherini, I, and Gattorno, M
Subjects: Plaque psoriasis, medicine.medical_specialty, Pathology, Settore MED/35 - Malattie Cutanee e Veneree, business.industry, Arthritis, medicine.disease, Dermatology, Rheumatology, Gain of function, Psoriasis, Internal medicine, Poster Presentation, Pediatrics, Perinatology and Child Health, medicine, Generalized pustular psoriasis, Immunology and Allergy, Pityriasis rubra pilaris, Pediatrics, Perinatology, and Child Health, business, Domain family
Abstract: Autosomal dominant gain of function mutations in caspase recruitment domain family member 14 (CARD14) were found to cause plaque psoriasis in two families and severe generalized pustular psoriasis as a monogenic form of childhood (CARD14-mediated psoriasis, CAMPS) [1]. CARD14 mutations have also been implicated in plaque-type psoriasis and pityriasis rubra pilaris [2].
Published: 2015

138. Performance of different diagnostic criteria for familial Mediterranean fever in children with periodic fevers: results from a multicenter international registry

Author: Demirkaya, E, Saglam, C, Turker, T, Koné Paut, I, Woo, P, Doglio, M, Amaryan, G, Frenkel, J, Uziel, Y, Insalaco, A, Cantarini, L, Hofer, M, Boiu, S, Ozaltin, F, Modesto, C, Bryant, A, Rigante, Donato, Papadopoulou Alataki, E, Guillaume Czitrom, S, Kuemmerle Deschner, J, Neven, B, Lachmann, H, Martini, A, Ruperto, N, Gattorno, M, Ozen, S., Rigante, Donato (ORCID:0000-0001-7032-7779), Demirkaya, E, Saglam, C, Turker, T, Koné Paut, I, Woo, P, Doglio, M, Amaryan, G, Frenkel, J, Uziel, Y, Insalaco, A, Cantarini, L, Hofer, M, Boiu, S, Ozaltin, F, Modesto, C, Bryant, A, Rigante, Donato, Papadopoulou Alataki, E, Guillaume Czitrom, S, Kuemmerle Deschner, J, Neven, B, Lachmann, H, Martini, A, Ruperto, N, Gattorno, M, Ozen, S., and Rigante, Donato (ORCID:0000-0001-7032-7779)
Abstract: OBJECTIVE: Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF). METHODS: Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed. RESULTS: The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity rate of 87.4% and a specificity rate of 40.7%. On the other hand, Tel Hashomer and Livneh criteria displayed a sensitivity of 45.0 and 77.3%, respectively. Both of the latter criteria displayed a better specificity than the Yalcinkaya-Ozen criteria: 97.2 and 41.1% for the Tel Hashomer and Livneh criteria, respectively. The overall accuracy for the Yalcinkaya-Ozen criteria was 65 and 69.6% (using 2 and 3 criteria), respectively. Ethnicity and residence had no effect on the performance of the Yalcinkaya-Ozen criteria. CONCLUSION: The Yalcinkaya-Ozen criteria yielded a better sensitivity than the other criteria in this international cohort of patients and thus can be used as a tool for FMF diagnosis in pediatric patients from either the European or eastern Mediterranean region. However, the specificity was lower than the previously suggested adult criteria.
Published: 2016

139. The phenotype and genotype of mevalonate kinase deficiency: a series of 114 cases from the Eurofever Registry

Author: ter Haar, N. m., Jeyaratnam, J., Lachmann, H. j., Simon, A., Brogan, P. a., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, Donato, Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., Gattorno, M., Rigante, Donato (ORCID:0000-0001-7032-7779), ter Haar, N. m., Jeyaratnam, J., Lachmann, H. j., Simon, A., Brogan, P. a., Doglio, M., Cattalini, M., Anton, J., Modesto, C., Quartier, P., Hoppenreijs, E., Martino, S., Insalaco, A., Cantarini, L., Lepore, L., Alessio, M., Calvo Penades, I., Boros, C., Consolini, R., Rigante, Donato, Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., Gattorno, M., and Rigante, Donato (ORCID:0000-0001-7032-7779)
Abstract: OBJECTIVE: Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment in an international cohort of MKD patients. METHODS: All MKD cases were extracted from the Eurofever registry (Executive Agency for Health and Consumers project no. 2007332), an international, multicenter registry that retrospectively collects data on children and adults with autoinflammatory diseases. RESULTS: The study included 114 MKD patients. The median age at onset was 0.5 years. Patients had on average 12 episodes per year. Most patients had gastrointestinal symptoms (n = 112), mucocutaneous involvement (n = 99), lymphadenopathy (n = 102), or musculoskeletal symptoms (n = 89). Neurologic symptoms included headache (n = 43), cerebellar syndrome (n = 2), and mental retardation (n = 4). AA amyloidosis was noted in 5 patients, almost twice as many as expected from findings in previous cohorts. Macrophage activation syndrome occurred in 1 patient. Patients were generally well between attacks, but 10-20% of the patients had constitutional symptoms, such as fatigue, between fever episodes. Patients with p.V377I/p.I268T compound heterozygosity had AA amyloidosis significantly more often. Patients without a p.V377I mutation more often had severe musculoskeletal involvement. Treatment with nonsteroidal antiinflammatory drugs relieved symptoms. Steroids given during attacks, anakinra, and etanercept appeared to improve symptoms and could induce complete remission in patients with MKD. CONCLUSION: We describe the clinical and genetic characteristics of 114 MKD patients, which is the largest cohort studied so far. The clinical manifestations confirm earlier reports. However, the prevalence of AA amyloidosis is far higher than expected.
Published: 2016

140. Behçet disease in the pediatric age: data on 129 patients collected from an Italian cohort

Author: Gallizzi, R, Finetti, M, Crapanzano, M, Cantarini, L, Cattalini, M, Filocamo, G, Insalaco, A, Mauro, A, Rigante, Donato, Zulian, F, Alessio, M, Parissenti, I, Ruperto, N, Gattorno, M, Cimaz, R., Rigante, Donato (ORCID:0000-0001-7032-7779), Gallizzi, R, Finetti, M, Crapanzano, M, Cantarini, L, Cattalini, M, Filocamo, G, Insalaco, A, Mauro, A, Rigante, Donato, Zulian, F, Alessio, M, Parissenti, I, Ruperto, N, Gattorno, M, Cimaz, R., and Rigante, Donato (ORCID:0000-0001-7032-7779)
Abstract: Data related to 129 Italian pediatric patients with Behçet disease have been herein analyzed and discussed.
Published: 2016

141. Use of Canakinumab in the Routinary Clinical Practice in Severe Cryopyrin-Associated Periodic Syndrome: One Year of Follow-up

Author: Caorsi R., Lepore L., Zulian F., Stabile A., Finetti M., Martini A., Gattorno M., ALESSIO, MARIA, Caorsi, R., Lepore, L., Zulian, F., Alessio, Maria, Stabile, A., Finetti, M., Martini, A., and Gattorno, M.
Published: 2011

142. The Quality of Life of Children and Adolescents with X-Linked Agammaglobulinemia

Author: Soresina A., Nacinovich R., Bomba M., Cassani M., Molinaro A., Sciotto A., Martino S., Cardinale F., De Mattia D., Putti C., Dellepiane R.M., Felici L., Parrinello G., Neri F., Plebani A., Pierani P., DeMattia D., Martire B., Armenio L., Dammacco F., Ranieri G., Masi M., Miniaci A., Pession A., Rondelli R., Notarangelo L. D., Cao, Cossu F., Del Giacco S., Manconi P., Evangelista I., Magro S., Morgione S., STRISCIUGLIO, PIETRO, Anastasio E., Schillirò G., Paganelli R., Sticca M., Sperlì D., Carpino L., Bernini G., Azzari C., Maggi E., Romagnani S., Matucci A., Vultaggio A., Castagnola E., Gattorno M., Presta G., Civino A., Gambaretto G., Fasoli S., Salpietro C., Pietrogrande M.C., DellePiane R.M., Panisi C., Cambiaghi G., Pietrogrande M., Roncarolo M.G., Aiuti A., Masera G., Biondi A., Sala A., PIGNATA, CLAUDIO, Poggi V., Menna G., Di Nardo R., D'Apuzzo A., Pelliccia A., Correra A., Marone G., SPADARO, GIUSEPPE, Carli M., Zanesco L., Basso G., Putti M.C., Semenzato G., Agostini C., Amato G.M., Aricò M., Trizzino A., Izzi G., Bertolini P., Locatelli F., Zecca M., Rondini G., Marseglia G.L., Maccario R., Bossi G., Favre C., Consolini R., Vecchi V., Sacchini P., Rinaldi G., Ugazio A.G., Rossi P., Livadiotti S., Cancrini C., Finocchi A., Stabile A., Duse M., Iacobini M., Quinti I., Moschese V., Cecere F., Morgese G., Acquaviva A., De Zan G., Strafella S., Tamaro P., Rabusin M., Tovo P.A., Nespoli L., Marinoni M., Porcellini A., Cazzola G.A., Annarosa, Soresina, Renata, Nacinovich, Monica, Bomba, Morena, Cassani, Molinaro, Anna, Antonella, Sciotto, Silvana, Martino, Fabio, Cardinale, Domenico, Mattia, Caterina, Putti, Rosa Maria, Dellepiane, Leonardo, Felici, Giovanni, Parrinello, Francesca, Neri, Alessandro, Plebani, Soresina, A, Nacinovich, R, Bomba, M, Cassani, M, Molinaro, A, Sciotto, A, Martino, S, Cardinale, F, De Mattia, D, Putti, C, Dellepiane, R, Felici, L, Parrinello, G, Neri, F, Plebani, A, Soresina, A., Nacinovich, R., Bomba, M., Cassani, M., Molinaro, A., Sciotto, A., Martino, S., Cardinale, F., De Mattia, D., Putti, C., Dellepiane, R. M., Felici, L., Parrinello, G., Neri, F., Plebani, A., Pierani, P., Demattia, D., Martire, B., Armenio, L., Dammacco, F., Ranieri, G., Masi, M., Miniaci, A., Pession, A., Rondelli, R., Notarangelo, L. D., Cao, Cossu, F., Del Giacco, S., Manconi, P., Evangelista, I., Magro, S., Morgione, S., Strisciuglio, Pietro, Anastasio, E., Schillirò, G., Paganelli, R., Sticca, M., Sperlì, D., Carpino, L., Bernini, G., Azzari, C., Maggi, E., Romagnani, S., Matucci, A., Vultaggio, A., Castagnola, E., Gattorno, M., Presta, G., Civino, A., Gambaretto, G., Fasoli, S., Salpietro, C., Pietrogrande, M. C., Panisi, C., Cambiaghi, G., Pietrogrande, M., Roncarolo, M. G., Aiuti, A., Masera, G., Biondi, A., Sala, A., Pignata, Claudio, Poggi, V., Menna, G., Di Nardo, R., D'Apuzzo, A., Pelliccia, A., Correra, A., Marone, G., Spadaro, Giuseppe, Carli, M., Zanesco, L., Basso, G., Putti, M. C., Semenzato, G., Agostini, C., Amato, G. M., Aricò, M., Trizzino, A., Izzi, G., Bertolini, P., Locatelli, F., Zecca, M., Rondini, G., Marseglia, G. L., Maccario, R., Bossi, G., Favre, C., Consolini, R., Vecchi, V., Sacchini, P., Rinaldi, G., Ugazio, A. G., Rossi, P., Livadiotti, S., Cancrini, C., Finocchi, A., Stabile, A., Duse, M., Iacobini, M., Quinti, I., Moschese, V., Cecere, F., Morgese, G., Acquaviva, A., De Zan, G., Strafella, S., Tamaro, P., Rabusin, M., Tovo, P. A., Nespoli, L., Marinoni, M., Porcellini, A., and Cazzola, G. A.
Subjects: Male, Pediatrics, medicine.medical_specialty, x-linked agammaglobulinemia, Activities of daily living, Adolescent, X-linked agammaglobulinemia, Health Status, Immunology, pedsql 4.0 generic core scale, Quality of life, children, Agammaglobulinemia, Surveys and Questionnaires, Activities of Daily Living, health-related quality of life, parents, medicine, Humans, Immunology and Allergy, PedsQL 4.0 Generic Core Scale, Child, Settore MED/38 - Pediatria Generale e Specialistica, Health related quality of life, quality of live, business.industry, Immunoglobulins, Intravenous, Genetic Diseases, X-Linked, medicine.disease, Socioeconomic Factors, Child, Preschool, Mutation, Quality of Life, Female, X-linked agammaglobulinemia - children - parents - health-related quality of life - PedsQL 4.0 Generic Core Scale, business
Abstract: Introduction: The health-related quality of life in X-linked agammaglobulinemia was investigated in 25 children and adolescents patients through the Italian version of Pediatric Quality of Life Inventory 4.0 Generic Core Scale for patients aged less then 18 years, comparing child perception to that of the parents and the physician's evaluation. The data were compared with the ones of 80 healthy controls and the literature data of a group of patients with rheumatic diseases. Discussion: The agammaglobulinemia subjects perceived a lower global quality of life than the healthy subjects, but significantly higher than the rheumatic diseases controls. The clinical relevance of health-related quality of life assessment in X-linked agammaglobulinemia pediatric patients is discussed. © 2008 Springer Science+Business Media, LLC.
Published: 2009

143. Perspective validation of the Eurofever classification criteria for monogenic fevers

Author: Federici, S, Dolezalova, P, Cantarini, L, Papadopoulou-Alataki, E, Alessio, M, Herlin, Troels, Gueli, I, Modesto, C, Fabio, G, Maggio, MC, Rua Borduy, MJ, Garibotto, F, Insalaco, A, Kozlova, A, Anton, J, Birk, R, Frenkel, J, Hoppenreijs, E, Sormani, MP, Martini, A, and Gattorno, M.
Published: 2014

144. Clinical features, long-term follow-up and outcome of a large cohort of patients with chronic granulomatous disease: an Italian multicelter study

Author: Martire, B, Rondelli, R, Soresina, A, Pignata, C, Broccoletti, T, Finocchi, A, Rossi, P, Gattorno, M, Rabusin, M, Azzari, C, Dellepiane, Rm, Pietrogrande, Mc, Trizzino, A, Di Bartolomeo, P, Martino, Silvana, Carpino, L, Cossu, F, Locatelli, F, Maccario, R, Pierani, P, Putti, Mc, Stabile, A, Notarangelo, Ld, Ugazio, Ag, Plebani, A, De Mattia, D, Ipinet, Martire, B, Rondelli, R, Soresina, A, Pignata, Claudio, Broccoletti, Teresa, Finocchi, A, Rossi, P, Gattorno, M, Rabusin, M, Azzari, C, Dellepiane, R. M., Pietrogrande, M. C., Trizzino, A, DI BARTOLOMEO, P, Martino, S, Carpino, L, Cossu, F, Locatelli, F, Maccario, R, Pievani, P, Putti, M. C., Stabile, A, Notarangelo, L. D., Ugazio, A. G., Plebani, A, and DE MATTIA, D.
Subjects: Male, absence of side effects, Granulomatous Disease, Chronic, cause of death, Chronic granulomatous disease, Anti-Infective Agents, amphotericin B, cotrimoxazole, fluconazole, gamma interferon, itraconazole, voriconazole, adolescent, adult, article, brain abscess, child, chronic granulomatous disease, clinical feature, clinical trial, cohort analysis, conjunctivitis, controlled clinical trial, controlled study, dermatitis, disease course, drug efficacy, drug withdrawal, enteritis, enterocolitis, fatigue, female, fever, follow up, function test, granulocyte function, headache, human, incidence, liver abscess, long term care, lung abscess, lymphadenitis, male, multicenter study, myalgia, osteomyelitis, otitis, pneumonia, priority journal, prophylaxis, prospective study, rash, septicemia, single drug dose, sinusitis, skin abscess, survival rate, treatment duration, Antifungal Agents, Antiviral Agents, Bacterial Infections, Child, Child, Preschool, Cohort Studies, Female, Follow-Up Studies, Humans, Infant, Interferon Type II, Italy, Itraconazole, Kaplan-Meiers Estimate, Retrospective Studies, Treatment Outcome, Trimethoprim-Sulfamethoxazole Combination, Immunopathology, Chronic, Interferon gamma (IFNγ), Cohort, clinica features, Cohort study, medicine.medical_specialty, Cotrimoxazole (CTX), Immunology, Interferon-gamma, Settore MED/38 - Pediatria Generale e Specialistica, Follow up, Itraconazole (ITRA), medicine.disease, Kaplan-Meier Estimate, Skin infection, Immunology and Allergy, Mortality rate, Granulomatous Disease, medicine.drug, Chronic Granulomatous Disease (CGD), Infections, Internal medicine, Trimethoprim, Sulfamethoxazole Drug Combination, medicine, Preschool, business.industry, Retrospective cohort study, Surgery, business
Abstract: A retrospective clinical and immunological survey was conducted in 60 patients with Chronic Granulomatous Disease. A prospective controlled non-randomized study of the efficacy of long-term IFNgamma treatment was carried out. The mean age at the time of diagnosis was 4.4 years; mean duration of follow-up was 10.4 years. Lung and skin infections were the most frequent manifestations both prior to diagnosis and during follow-up. Aspergillus species was the first cause of infection and of death in our cohort. The mortality rate was 13%. Long term prophylaxis with IFNgamma did not significantly change the rate of total infection per patient-year compared to controls (p=0.07). Our data provide clear evidence that protocols of continuing intensive surveillance and monitoring of compliance with anti-infective regimens may significantly improve the quality of life and long-term survival in patients with CGD. No evidence justifying long-term prophylaxis with IFNgamma was obtained.
Published: 2008

145. Patterns of IL-1 beta secretion and response to Anti-IL-1 treatment in Cias-1 mutated patients and systemic onset JIA (SoJIA)

Author: Gattorno M, Ferlito F, Pelagatti MA, Carta S, Tassi S, Buoncompagni A, Loy A, Viola S, Ravelli A, Martini A, Rubartelli A., ALESSIO, MARIA, Gattorno, M, Ferlito, F, Pelagatti, Ma, Carta, S, Tassi, S, Buoncompagni, A, Loy, A, Alessio, Maria, Viola, S, Ravelli, A, Martini, A, and Rubartelli, A.
Published: 2006

146. The Cost Of Illness of Ultra-Rare Cryopyrin Associated Periodic Syndromes (CAPS) In Italy: Preliminary Results From The Radicea Project

Author: Lorenzoni, V, primary, Accame, L, additional, Trieste, L, additional, Federici, S, additional, Finetti, M, additional, Gattorno, M, additional, Martini, A, additional, and Turchetti, G, additional
Published: 2016
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147. Proton pump inhibitors protect mice from acute systemic inflammation and induce long-term cross-tolerance

Author: Balza, E, primary, Piccioli, P, additional, Carta, S, additional, Lavieri, R, additional, Gattorno, M, additional, Semino, C, additional, Castellani, P, additional, and Rubartelli, A, additional
Published: 2016
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148. FRI0488 A Phase Iii Pivotal Umbrella Trial of Canakinumab in Patients with Autoinflammatory Periodic Fever Syndromes (Colchicine Resistant FMF, HIDS/MKD and TRAPS)

Author: De Benedetti, F., primary, Anton, J., additional, Gattorno, M., additional, Lachmann, H., additional, Kone-Paut, I., additional, Ozen, S., additional, Frenkel, J., additional, Simon, A., additional, Zeft, A., additional, Ben-Chetrit, E., additional, Hoffman, H., additional, Joubert, Y., additional, Lheritier, K., additional, Speziale, A., additional, and Junge, G., additional
Published: 2016
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149. Surveillance of Periodic Fever Syndromes in Canada

Author: Dancey, P, primary, Benseler, S, additional, Miettunen, P, additional, Turner, L, additional, Gattorno, M, additional, Laxer, R M., additional, and Junker, A, additional
Published: 2016
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150. THU0569 Pharmacokinetics and Pharmacodynamics of Canakinumab in Patients with Autoinflammatory Periodic Fever Syndromes (Colchicine Resistant FMF, HIDS/MKD and TRAPS)

Author: De Benedetti, F., primary, Anton, J., additional, Gattorno, M., additional, Lachmann, H., additional, Kone-Paut, I., additional, Ozen, S., additional, Frenkel, J., additional, Simon, A., additional, Zeft, A., additional, Ben-Chetrit, E., additional, Hoffman, H., additional, Joubert, Y., additional, Lheritier, K., additional, Speziale, A., additional, Junge, G., additional, and Xu, X., additional
Published: 2016
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