Riccardo Papa

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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(More)
BACKGROUND Female carriers of Duchenne muscular dystrophy (DMD), although usually asymptomatic, develop muscle weakness up to 17% of the time, and a third present cardiac abnormalities or cognitive impairment. Clinical features of DMD carriers during childhood are poorly known. PATIENTS We describe a cohort of pediatric DMD carriers, providing clinical,(More)
A search for lymphocytotoxic antibodies in 50 SLE patients and in 109 of their blood relatives revealed an incidence of cold-reacting antibodies of 80% and 39% respectively, as compared with 15% in 110 normal blood donors paired for age, sex, and racial origin. The antibodies were also present in 7 of 18 (39%) of the spouses of SLE patients. Lymphocytotoxic(More)
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(More)
P381 Transient periosteal hyperostosis with dysproteinemia (Goldbloom syndrome): two cases report Riccardo Papa, Alessandro Consolaro, Francesca Minoia, Roberta Caorsi, Gianmichele Magnano, Marco Gattorno, Angelo Ravelli, Paolo Picco Pediatria II, Reumatologia, Istituto Giannina Gaslini, Genoa, Italy; Radiologia, Istituto Giannina Gaslini, Genoa, Italy(More)
OBJECTIVES Eosinophilic fasciitis is an uncommon scleroderma-like disorder characterised by induration and thickening of skin and soft tissue, usually associated with peripheral eosinophilia, poorly characterised in childhood. METHODS We report 3 paediatric cases of eosinophilic fasciitis showing unusual clinical and histopathological features with a(More)
Introduction the possible range of clinical manifestations associated to the different mutations associated to autoinflammatory disorders is still largely unknown. A registry of hereditary auto-inflammatory disorders mutations is available on the web (Infevers, http://fmf.igh.cnrs.fr/ISSAID/infevers/). This registry gathers updated information on all(More)