Abstract
Clinical entities chracterized by repeated attacks of fever with out apparent infectious or autoimmune origin are known for deca des, however, the ethiopathogenesis of these diseases is being elucidated just during last years. Currently, these so called periodic fever syndr omes are included to larger group of diseases, "autoinflammatory syndromes".
Several clear define entities are members of this cathegory: Familar Mediteranean Fever, FMF, caused by mutations in gene MEFV discovered in 1997 and protein pyrin described in 1999, FCAS, "familiar cold autoi nflammatory sydrome", MWS, "Muckle Wells syndrome" and syndroms NOMID "neonatal onset multisystem inflammatory disease" or CINCA "chronic infantile neurologic cutaneous and articular syndrome" with common causative gene CIAS1 and protein cryopyrin, PAPA syndrom (st erile pyogenic arthritis, pyoderma gangrenosum and akne), and lastly Blau syndrom and Crohn disease, caused by mutations in NOD2. Hyp er IgD syndrom is classical metabolic disease caused by mutations in mevalonate kinase and TRAPS syndrom by mutations in TNF receptor, TNFRSF1A.
Review article summarizes clinical and laboratory aspects of autoinf lammatory syndroms and particularly focuses on the latest d iscoveries in their pathogenesis.