title: Clinical and biochemical landmarks in systemic autoinflammatory diseases.
abstract: Systemic autoinflammatory diseases are a group of inherited disorders of the innate immune system characterized by seemingly unprovoked inflammation recurring at variable intervals and involving skin, serosal membranes, joints, and gastrointestinal apparatus, with reactive amyloidosis as a possible severe long-term complication. Recent advances in genetics and molecular biology have improved our understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, and hereditary pyogenic and granulomatous disorders: the vast majority of these conditions are related to the activation of the interleukin-1 pathway, which results in (or from?) a common unifying pathogenetic mechanism. Their diagnostic identification derives from the combination of clinical data, evaluation of acute phase reactants, clinical efficacy in response to specific drugs, and recognition of specific mutations in the relevant genes, although genetic tests may be unconstructive in some cases. This review will discuss clinical and laboratory clues useful for a diagnostic approach to systemic autoinflammatory diseases.
authors.affiliation: Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, Siena, Italy. cantariniluca@hotmail.com
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
authors.forename: Maria Giuseppina
authors.initials: MG
authors.lastname: Brizi
authors.forename: Orso Maria
authors.initials: OM
authors.lastname: Lucherini
authors.forename: Gian Domenico
authors.initials: GD
authors.lastname: Sebastiani
authors.forename: Antonio
authors.initials: A
authors.lastname: Vitale
authors.forename: Valentina
authors.initials: V
authors.lastname: Gianneramo
authors.forename: Mauro
authors.initials: M
authors.lastname: Galeazzi
mesh_terms: D017209:Apoptosis / Q000235:genetics; D001323:Autoantibodies / Q000235:genetics; D015551:Autoimmunity / Q000235:genetics* / Q000276:immunology; D056660:Hereditary Autoinflammatory Diseases / Q000145:classification* / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007113:Immunity, Innate; D007159:Immunologic Tests; D007249:Inflammation / Q000235:genetics* / Q000276:immunology
chemical_list: D001323:Autoantibodies