title: Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
abstract: Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists.
authors.affiliation: Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Padua, Padova, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Caso
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
authors.forename: Antonio
authors.initials: A
authors.lastname: Vitale
authors.forename: Orso Maria
authors.initials: OM
authors.lastname: Lucherini
authors.forename: Luisa
authors.initials: L
authors.lastname: Costa
authors.forename: Mariangela
authors.initials: M
authors.lastname: Atteno
authors.forename: Adele
authors.initials: A
authors.lastname: Compagnone
authors.forename: Paolo
authors.initials: P
authors.lastname: Caso
authors.forename: Bruno
authors.initials: B
authors.lastname: Frediani
authors.forename: Mauro
authors.initials: M
authors.lastname: Galeazzi
authors.forename: Leonardo
authors.initials: L
authors.lastname: Punzi
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini