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1. Prevalence of cranial involvement in a cohort of Italian patients with chronic non-bacterial osteomyelitis

Author

Ferrara, G., Insalaco, A., Pardeo, M., Cattalini, M., La Torre, F., Finetti, M., Ricci, F., Alizzi, C., Teruzzi, B., Simonini, G., Messia, V., Pastore, S., Morra, L., Cimaz, R., Marco Gattorno, Taddio, A., Ferrara, Giovanna, Insalaco, Antonella, Pardeo, Manuela, Cattalini, Marco, La Torre, Francesco, Finetti, Martina, Ricci, Francesca, Alizzi, Clotilde, Teruzzi, Barbara, Simonini, Gabriele, Messia, Virginia, Pastore, Serena, Morra, Laura, Cimaz, Rolando, Gattorno, Marco, and Taddio, Andrea

Subjects
Male, Chronic Non-Bacterial Osteomyeliti, Brain, Cephalometry, Child, Chronic Disease, Cohort Studies, Female, Humans, Italy, Prevalence, Retrospective Studies, Skull, Osteomyelitis, Chronic Non-Bacterial Osteomyelitis, children, Immunology, Rheumatology, Immunology and Allergy
Abstract

Chronic non-bacterial osteomyelitis (CNO) is a non-infectious inflammatory disease characterised by uni- or multi-focal bone lytic lesions. CNO mainly affects metaphysis of long bones, pelvis and shoulder girdle. Neurocranium lesions are extremely rare. The objective of the study is to describe the prevalence and clinical manifestations of CNO patients with neurocranium involvement in an Italian cohort of CNO patients.This is a retrospective study. Medical records of patients with CNO admitted to eight paediatric rheumatology centres were reviewed.Among 86 patients with CNO enrolled in the study, three of them were female and presented neurocranium involvement - multifocal lesions. Two out of the 3 patients were completely asymptomatic for cranial involvement, while one of the 3 complained of cranial bossing. Cranial involvement was detected with bone scintigraphy and then confirmed by magnetic resonance imaging and/or computed tomography. Two patients presented fever and two with skin manifestations. Laboratory inflammatory markers were increased in two of them. All patients underwent bone biopsy confirming the diagnosis. They all received NSAIDs. Two patients received corticosteroids and then methotrexate and achieved clinical remission, while one patient received pamidronate.This is the first report of neurocranium involvement in a cohort of patients affected by CNO. In our cohort no patient showed significant signs attributable to cranial involvement.

Published
2020

3. National CAPS (Cryopyrin-Associated Periodic Syndrome) Registry

Author

Gallizzi R, Manna R, Insalaco A, Rigante D, Stabile A, Cattalin M, Alessio M, Martini G, Zulian F, Finetti M, Gattorno M, Lepore L, Paloni G, Bibalo C, Obici L, Cantarini L, Martino S, and Cionsolini R

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2011
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6. Erratum: The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry (Rheumatology (Oxford, England) (2018))

Author

Girschick H., Finetti M., Orlando F., Schalm S., Insalaco A., Ganser G., Nielsen S., Herlin T., Kone-Paut I., Martino S., Cattalini M., Anton J., Mohammed Al-Mayouf S., Hofer M., Quartier P., Boros C., Kuemmerle-Deschner J., Pires Marafon D., Alessio M., Schwarz T., Ruperto N., Martini A., Jansson A., Gattorno M., Girschick, H., Finetti, M., Orlando, F., Schalm, S., Insalaco, A., Ganser, G., Nielsen, S., Herlin, T., Kone-Paut, I., Martino, S., Cattalini, M., Anton, J., Mohammed Al-Mayouf, S., Hofer, M., Quartier, P., Boros, C., Kuemmerle-Deschner, J., Pires Marafon, D., Alessio, M., Schwarz, T., Ruperto, N., Martini, A., Jansson, A., and Gattorno, M.

Published
2018

7. The longitudinal Eurofever project: an update on enrollment

Author

Gueli, I, Finetti, M, De Benedetti, F, Lopez, Ja, Alessio, M, Frenkel, J, Cantarini, L, Gallizzi, R, Sanchez Manubens, J, Cattalini, M, Papadopoulou-Alataki, E, Cimaz, R, Rigante, Donato, Olivieri, An, Dolezalova, P, Martini, A, Ruperto, N, and Gattorno, M

Subjects
Settore MED/16 - REUMATOLOGIA, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Autoinflammation
Published
2019

10. The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry

Author

Girschick H, Finetti M, Orlando F, Schalm S, Insalaco A, Ganser G, Nielsen S, Herlin T, Kone-Paut I, Martino S, Cattalini M, Anton-Lopez J, Mohammed Al-Mayouf S, Hofer M, Quartier P, Boros C, Kuemmerle-Deschner J, Pires Marafon D, Alessio M, Schwarz T, Ruperto N, Martini A, Jansson A, Gattorno M, and PRINTO and the Eurofever registry

Subjects
SAPHO, autoinflammatory diseases, bisphosphonates, bone inflammation, chronic non-bacterial osteomyelitis, chronic recurrent multifocal osteomyelitis, magnetic resonance imaging, palmoplantar pustulosis, registry, treatment
Abstract

Chronic non-bacterial osteomyelitis (CNO) or chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory disorder characterized by sterile bone osteolytic lesions. The aim of this study was to evaluate the demographic data and clinical, instrumental and therapeutic features at baseline in a large series of CNO/CRMO patients enrolled in the Eurofever registry.

Published
2018

11. 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

12. 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

13. 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

14. 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

18. 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

21. The Eurofever Project : Towards the longitudinal stage

Author

Federici, S., Frenkel, J., Ozen, S., Finetti, M., Garibotto, F., Lachmann, H., Martini, A., Ruperto, N., Federici, S., Frenkel, J., Ozen, S., Finetti, M., Garibotto, F., Lachmann, H., Martini, A., and Ruperto, N.

Published
2015

22. The Eurofever Project: Towards the longitudinal stage

Author

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

Published
2015

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

Author

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

Published
2015
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28. Long-term efficacy of IL-1 blockers in PAPA patients

Author

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

Published
2015
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33. Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes

Author

Piram, M., Kone-Paut, I., Lachmann, H.J., Frenkel, J., Ozen, S., Kuemmerle-Deschner, J., Stojanov, S., Simon, A., Finetti, M., Sormani, M.P., Martini, A., Gattorno, M., Ruperto, N., et al., Piram, M., Kone-Paut, I., Lachmann, H.J., Frenkel, J., Ozen, S., Kuemmerle-Deschner, J., Stojanov, S., Simon, A., Finetti, M., Sormani, M.P., Martini, A., Gattorno, M., Ruperto, N., and et al.

Abstract

Item does not contain fulltext, OBJECTIVES: To validate the Auto-Inflammatory Diseases Activity Index (AIDAI) in the four major hereditary recurrent fever syndromes (HRFs): familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndromes (CAPS). METHODS: In 2010, an international collaboration established the content of a disease activity tool for HRFs. Patients completed a 1-month prospective diary with 12 yes/no items before a clinical appointment during which their physician assessed their disease activity by a questionnaire. Eight international experts in auto-inflammatory diseases evaluated the patient's disease activity by a blinded web evaluation and a nominal group technique consensus conference, with their consensus judgement considered the gold standard. Sensitivity/specificity/accuracy measures and the ability of the score to discriminate active from inactive patients via the best cut-off score were calculated by a receiver operating characteristic analysis. RESULTS: Consensus was achieved for 98/106 (92%) cases (39 FMF, 35 CAPS, 14 TRAPS and 10 MKD), with 26 patients declared as having inactive disease and 72 as having active disease. The median total AIDAI score was 14 (range=0-175). An AIDAI cut-off score >/=9 discriminated active from inactive patients, with sensitivity/specificity/accuracy of 89%/92%/90%, respectively, and an area under the curve of 98% (95% CI 96% to 100%). CONCLUSIONS: The AIDAI score is a valid and simple tool for assessing disease activity in FMF/MKD/TRAPS/CAPS. This tool is easy to use in clinical practice and has the potential to be used as the standard efficacy measure in future clinical trials.

Published
2014

38. ATYPICAL TERATOID RHABDOID TUMOUR

Author

Bertozzi, A. I., primary, Munzer, C., additional, Fouyssac, F., additional, Andre, N., additional, Boetto, S., additional, Leblond, P., additional, Bourdeaut, F., additional, Dufour, C., additional, Deshpande, R. K., additional, Bhat, K. G., additional, Mahalingam, S., additional, Muscat, A., additional, Cain, J., additional, Ferguson, M., additional, Popovski, D., additional, Algar, E., additional, Rossello, F. J., additional, Jayasekara, S., additional, Watkins, D. N., additional, Hodge, J., additional, Ashley, D., additional, Hishii, M., additional, Saito, M., additional, Arai, H., additional, Han, Z. Y., additional, Richer, W., additional, Lucchesi, C., additional, Freneaux, P., additional, Nicolas, A., additional, Grison, C., additional, Pierron, G., additional, Delattre, O., additional, Epari, S., additional, TS, N., additional, Gupta, T., additional, Chinnaswamy, G., additional, Sastri, J. G., additional, Shetty, P., additional, Moiyadi, A., additional, Jalali, R., additional, Fay-McClymont, T., additional, Johnston, D., additional, Janzen, L., additional, Guger, S., additional, Scheinemann, K., additional, Fleming, A., additional, Fryer, C., additional, Hukin, J., additional, Mabbott, D., additional, Huang, A., additional, Bouffet, E., additional, Lafay-Cousin, L., additional, Kawamura, A., additional, Yamamoto, K., additional, Nagashima, T., additional, Bartelheim, K., additional, Benesch, M., additional, Buchner, J., additional, Gerss, J., additional, Hasselblatt, M., additional, Kortmann, R.-D., additional, Fleischack, G., additional, Quiroga, E., additional, Reinhard, H., additional, Schneppenheim, R., additional, Seeringer, A., additional, Siebert, R., additional, Timmermann, B., additional, Warmuth-Metz, M., additional, Schmid, I., additional, Fruhwald, M. C., additional, Kerl, K., additional, Klingebiel, T., additional, Al-Kofide, A., additional, Khafaga, Y., additional, Al-Hindi, H., additional, Dababo, M., additional, Ul-Haq, A., additional, Anas, M., additional, Barria, M. G., additional, Siddiqui, K., additional, Hassounah, M., additional, Ayas, M., additional, Al-Shail, E., additional, Jeibmann, A., additional, Eikmeier, K., additional, Linge, A., additional, Johann, P., additional, Koos, B., additional, Kool, M., additional, Pfister, S. M., additional, Paulus, W., additional, Schuller, U., additional, Junckerstorff, R., additional, Rosenblum, M. K., additional, Alassiri, A. H., additional, Rossi, S., additional, Gottardo, N., additional, Toledano, H., additional, Viscardi, E., additional, Witkowski, L., additional, Nagel, I., additional, Oyen, F., additional, Foulkes, W. D., additional, Schrey, D., additional, Malietzis, G., additional, Chi, S., additional, Marshall, L., additional, Carceller, F., additional, Moreno, L., additional, Zacharoulis, S., additional, Bhardwaj, R., additional, Chakravadhanula, M., additional, Ozals, V., additional, Hampton, C., additional, Metpally, R., additional, Grillner, P., additional, Asmundsson, J., additional, Gustavsson, B., additional, Holm, S., additional, Johann, P. D., additional, Korshunov, A., additional, Ryzhova, M., additional, Milde, T., additional, Witt, O., additional, Jones, D. T. W., additional, Hovestadt, V., additional, Gajjar, A., additional, Fruhwald, M., additional, Pfister, S., additional, Finetti, M., additional, Pons, A. d. C., additional, Selby, M., additional, Smith, A., additional, Crosier, S., additional, Wood, J., additional, Skalkoyannis, B., additional, Bailey, S., additional, Clifford, S., additional, Williamson, D., additional, Rutkowski, S., additional, Kortmann, R. D., additional, Graf, N., additional, Boos, J., additional, Nysom, K., additional, Moreno, N., additional, Holsten, T., additional, Ahlfeld, J., additional, Mertins, J., additional, Hotfilder, M., additional, Schleicher, S., additional, Handgretinger, R., additional, Meisterernst, M., additional, Schmidt, C., additional, Dittmar, S., additional, Chan, G. C. F., additional, Shing, M. M. K., additional, Yuen, H. L., additional, Li, R. C. H., additional, Ling, S. L., additional, Slavc, I., additional, Peyrl, A., additional, Chocholous, M., additional, Azizi, A., additional, Czech, T., additional, Dieckmann, K., additional, Haberler, C., additional, Leiss, U., additional, Gotti, G., additional, Biassoni, V., additional, Schiavello, E., additional, Spreafico, F., additional, Pecori, E., additional, Gandola, L., additional, Massimino, M., additional, Kornelius, K., additional, Yano, H., additional, Nakayama, N., additional, Ohe, N., additional, Ozeki, M., additional, Kanda, K., additional, Kimura, T., additional, Hori, T., additional, Fukao, T., additional, Iwama, T., additional, Weil, A. G., additional, Diaz, A., additional, Gernsback, J., additional, Bhatia, S., additional, Ragheb, J., additional, Niazi, T., additional, Khatib, Z., additional, Zoghbi, A., additional, Meisterernst, a. M., additional, Birks, D., additional, Griesinger, A., additional, Amani, V., additional, Donson, A., additional, Posner, R., additional, Dunham, C., additional, Kleinschmidt-DeMasters, B. K., additional, Handler, M., additional, Vibhakar, R., additional, Foreman, N., additional, Zhou, L., additional, Catchpoole, D., additional, Kakkar, A., additional, Biswas, A., additional, Suri, V., additional, Sharma, M., additional, Kale, S., additional, Mahapatra, A., additional, Sarkar, C., additional, Torchia, J., additional, Picard, D., additional, Ho, K. C., additional, Khuong-Quang, D.-A., additional, Louterneau, L., additional, Bourgey, M., additional, Chan, T., additional, Golbourn, B., additional, Cousin, L.-L., additional, Taylor, M. D., additional, Dirks, P., additional, Rutka, J. T., additional, Hawkins, C., additional, Majewski, J., additional, Kim, S.-K., additional, Jabado, N., additional, Chang, J. H.-C., additional, Confer, M., additional, Chang, A., additional, Goldman, S., additional, Dunn, M., additional, and Hartsell, W., additional

Published
2014
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42. Long-term follow up of Hyper IgD syndrome: a national collaborative study

Author

Federici, S, Tommasini, A, Meini, A, Calcagno, G, Zulian, F, Consolini, R, Finetti, M, Breda, L, Caorsi, R, Obici, L, Gallizzi, R, Rigante, Donato, Alessio, M, Martini, A, Gattorno, M, Rigante, D (ORCID:0000-0001-7032-7779), Federici, S, Tommasini, A, Meini, A, Calcagno, G, Zulian, F, Consolini, R, Finetti, M, Breda, L, Caorsi, R, Obici, L, Gallizzi, R, Rigante, Donato, Alessio, M, Martini, A, Gattorno, M, and Rigante, D (ORCID:0000-0001-7032-7779)

Abstract

The paper deals with long-term follow up of children with hyper IgD syndrome in a large national collaborative study.

Published
2011

43. Impact of mevalonate kinase deficiency (MKD) on the quality of life in children and young adults: a national multicentre study

Author

Federici, S, Tomasini, A, Meini, A, Doglio, M, Calcagno, G, Zulian, F, Consolini, R, Finetti, M, Breda, L, Caorsi, R, Obici, L, Gallizzi, R, Rigante, Donato, Alessio, M, Martini, A, Gattorno, M., Rigante, Donato (ORCID:0000-0001-7032-7779), Federici, S, Tomasini, A, Meini, A, Doglio, M, Calcagno, G, Zulian, F, Consolini, R, Finetti, M, Breda, L, Caorsi, R, Obici, L, Gallizzi, R, Rigante, Donato, Alessio, M, Martini, A, Gattorno, M., and Rigante, Donato (ORCID:0000-0001-7032-7779)

Abstract

The quality of life of children and young adults with mevalonate kinase deficiency has been explored in this national multicentre study.

Published
2011

47. FRI0026 Evidence for interleukin (IL)-1β pathway activation in monocytes from patients with familial mediterranean fever (fmf) and pyogenic sterile arthritis, pyoderma gangrenosum and acne (papa) syndrome

Author

Omenetti, A., primary, Carta, S., additional, Finetti, M., additional, Delfino, L., additional, Naselli, A., additional, Federici, S., additional, Caorsi, R., additional, Martini, A., additional, Rubartelli, A., additional, and Gattorno, M., additional

Published
2013
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49. THU0334 Differences in the features of familial mediterranean fever among patients from europe as compared to those from the eastern mediterranean countries

Author

Ozen, S., primary, Demirkaya, E., additional, Amaryan, G., additional, Koné-Paut, I., additional, Woo, P., additional, Uziel, Y., additional, Finetti, M., additional, Quartier, P., additional, Modesto, C., additional, Papadopoulou-Alataki, E., additional, Nielsen, S., additional, Hofer, M., additional, Polat, A., additional, Turker, T., additional, Insalaco, A., additional, Cantarini, L., additional, Al-Mayouf, S.M., additional, Frenkel, J., additional, Ozdogan, H., additional, Ruperto, N., additional, and Gattorno, M., additional

Published
2013
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