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NALP proteins, also known as NLRPs, belong to the CATERPILLER protein family involved, like Toll-like receptors, in the recognition of microbial molecules and the subsequent activation of inflammatory and immune responses. Current advances in the function of NALPs support the recently proposed model of a disease continuum bridging autoimmune and(More)
OBJECTIVE The goal of this study was to describe the spectrum of clinical signs of mevalonate kinase deficiency (MKD). METHODS This was a retrospective French and Belgian study of patients identified on the basis of MKD gene mutations. RESULTS Fifty patients from 38 different families were identified, including 1 asymptomatic patient. Symptoms began(More)
OBJECTIVES The aims of this study were to describe the clinical features of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) and identify distinct phenotypes in a large cohort of patients from different countries. METHODS We established a web-based multicentre cohort through an international collaboration within the periodic(More)
OBJECTIVE We aimed to validate the new paediatric criteria for diagnosis of FMF in a mixed population of 100 French patients. METHODS The study group included 100 FMF children from the French reference centre for auto-inflammatory disorders. A control group of 40 patients with unexplained recurrent fever was reviewed in parallel. Both groups of patients(More)
BACKGROUND The systemic autoinflammatory disorders (SAID) share many clinical manifestations, albeit with variable patterns, intensity and frequency. A common definition of disease activity would be rational and useful in the management of these lifelong diseases. Moreover, standardised disease activity scores are required for the assessment of new(More)
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)
OBJECTIVE To report on the demographic data from the first 18 months of enrollment to an international registry on autoinflammatory diseases in the context of the Eurofever project. METHODS A web-based registry collecting baseline and clinical information on autoinflammatory diseases and related conditions is available in the member area of the PRINTO(More)
: Autoinflammatory diseases are characterised by fever and systemic inflammation, with potentially serious complications. Owing to the rarity of these diseases, evidence-based guidelines are lacking. In 2012, the European project Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) was launched to optimise and disseminate regimens for(More)
OBJECTIVE To assess the clinical characteristics of patients living in France and carrying a single MEFV mutation. METHOD A retrospective chart review of patients referred to us for recurrent fevers. Genetic testing: systematic screening of exons 2 and 10 was performed in the MEFV gene. A subset of patients was also investigated for other(More)
Among hereditary inflammatory disorders, Muckle-Wells syndrome, chronic infantile neurological cutaneous and articular syndrome (CINCA), and familial cold urticaria have recently been shown to be caused by dominantly inherited mutations in the CIAS1 gene. Reports suggest that these 3 diseases result from distinct missense mutations, with very few(More)