Introduction Interleukin-1b (IL-1b) is a powerful pro-inflammatory cytokine synthesized in the inflammasome complex of immune cells in response to injury and infection. The excess activity of this cytokine plays a fundamental role in the pathogenesis of the autoinflammatory disorders. An emphasis on pediatric rheumatology is given to systemiconset juvenile idiopathic arthritis (SoJIA) and perio...

Cryopyrin-associated periodic syndromes are a group of autoinflammatory syndromes caused by mutations of the CIAS1gene (currently named NLRP3), and are characterized by periodic attacks of an urticaria-like rash, fever, headache, conjunctivitis and arthralgia. Often patients present in early childhood, but the great diversity of manifestations and the difficulties in genetic analyses make the d...

Introduction Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by periodic fever, cutaneous rash, conjunctivitis, lymphadenopathy, abdominal pain, myalgia, and arthralgia. It is a rare autosomal dominant disease and strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. The great diversity o...

Objectives. To determine whether PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) patients have a positive family history (FH) for recurrent fever syndromes. Method. For all patients with PFAPA seen in two paediatric rheumatology centres (Romandy, Switzerland and Bordeaux, France), parents were interviewed to record the FH for periodic fever. As controls, we interv...

Abstract Hereditary cancer syndromes, characterized by genetically distinct neoplasms developing in specific organs more than one family members, predispose an individual to early onset of site-specific tumors. Early age onset, multiorgan involvement, multiple and bilateral tumors, advanced disease at presentation, aggressive tumor histology are few characteristic features hereditary syndromes....