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OBJECTIVES Based on the fact that Henoch-Schönlein purpura (HSP) occurs in approximately 5% of persons with familial Mediterranean fever (FMF), we assessed the prevalence and significance of FMF gene mutations in children with one or more episodes of HSP. STUDY DESIGN Thirty-four boys and 18 girls treated for HSP at Rambam Medical Center were interviewed(More)
OBJECTIVES To validate the previously proposed classification criteria for Henoch-Schönlein purpura (HSP), childhood polyarteritis nodosa (c-PAN), c-Wegener granulomatosis (c-WG) and c-Takayasu arteritis (c-TA). METHODS Step 1: retrospective/prospective web-data collection for children with HSP, c-PAN, c-WG and c-TA with age at diagnosis <or=18 years.(More)
OBJECTIVE The clinical profile in familial Mediterranean fever (FMF), including its major manifestation, amyloidosis, is influenced by MEFV allelic heterogeneity and other genetic and/or environmental factors. In this study, we analyzed the contribution of genotypes at the MEFV and SAA1 loci to disease severity and to the development of amyloidosis, and(More)
OBJECTIVE Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease which primarily affects non-Ashkenazi Jews, Armenians, Arabs, and Turks. The gene responsible for the disease (MEFV/FMF) has been recently identified. Four common mutations in exon 10 of the MEFV gene seem to account for 86% of the DNA variations identified in patients(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)
FMF is widely distributed in populations inhabiting the Mediterranean basin. It is mainly attributed to five founder mutations (M680I, M694V, M694I, V726A, E148Q) in the MEFV gene. The frequencies and distribution of these mutations in 146 FMF patients, of Arab and Jewish descent, were compared to that observed in 1173 healthy individuals of pertinent(More)
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurring attacks of fever and serositis. Five sequence alterations (M694V, V726A, M680I, M694I and E148Q), in the MEFV gene, account for the majority of FMF chromosomes. The wide clinical variability of the disease has been related to MEFV allelic heterogeneity. M694V(More)
PURPOSE To present a retrospective overview of the clinical and radiological features of Camurati-Engelmann disease (CED) in a large family with genetically proven CED. MATERIAL AND METHODS Clinical features and imaging studies were available in 8 affected patients out of a large Jewish-Iraqi family with 21 affected members in four generations. The(More)
BACKGROUND Interleukin-1 is pivotal in the pathogenesis of systemic juvenile idiopathic arthritis (JIA). We assessed the efficacy and safety of canakinumab, a selective, fully human, anti-interleukin-1β monoclonal antibody, in two trials. METHODS In trial 1, we randomly assigned patients, 2 to 19 years of age, with systemic JIA and active systemic(More)
PFAPA is a periodic fever disease, of unknown etiology, characterized by aphthous stomatitis, pharyngitis and cervical adenitis. To inquire whether genes implicated in other auto-inflammatory diseases might be involved in its pathogenesis, predominant mutations in the genes causing familial Mediterranean fever, TNF receptor-associated periodic fever(More)