title: Working the endless puzzle of hereditary autoinflammatory disorders.
abstract: Hereditary autoinflammatory disorders encompass manifold dysfunctions of innate immunity caused by mutations in genes coding for the main characters of the inflammatory scene: most of these conditions have an early onset, ranging from the first days of life to the first decades, and include hereditary periodic fevers, NLRP-related diseases, granulomatous and pyogenic syndromes, which are basically characterized by upturned inflammasome activity and overproduction of bioactive interleukin (IL)-1β and other proinflammatory cytokines. The discovery of a causative link between autoinflammation and IL-1β release has improved our understanding of the intimate mechanisms of innate immunity, and has likewise led to the identification of extraordinary treatments for many of these disorders.
authors.affiliation: Rheumatology Unit, Department of Medicine, University of Padua , Padua , Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Caso
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini
authors.forename: Orso Maria
authors.initials: OM
authors.lastname: Lucherini
authors.forename: Paolo
authors.initials: P
authors.lastname: Sfriso
authors.forename: Maria
authors.initials: M
authors.lastname: Fioretti
authors.forename: Luisa
authors.initials: L
authors.lastname: Costa
authors.forename: Antonio
authors.initials: A
authors.lastname: Vitale
authors.forename: Mariangela
authors.initials: M
authors.lastname: Atteno
authors.forename: Mauro
authors.initials: M
authors.lastname: Galeazzi
authors.forename: Isabella
authors.initials: I
authors.lastname: Muscari
authors.forename: Flora
authors.initials: F
authors.lastname: Magnotti
authors.forename: Bruno
authors.initials: B
authors.lastname: Frediani
authors.forename: Leonardo
authors.initials: L
authors.lastname: Punzi
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
mesh_terms: D016207:Cytokines / Q000235:genetics* / Q000378:metabolism; D056660:Hereditary Autoinflammatory Diseases / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics*; D053583:Interleukin-1beta / Q000235:genetics* / Q000378:metabolism
chemical_list: D016207:Cytokines; D053583:Interleukin-1beta