title: The hereditary autoinflammatory disorders uncovered.
abstract: There is a thriving interest in the field of hereditary autoinflammatory disorders (HAID), a gamut of heterogeneous conditions deriving from an aberrant orchestration of innate immunity, unified by the common feature of seemingly unprovoked inflammation, which might be systemic or occur in localized niches of the organism. Recurrent fever and episodic inflammation in the joints, serosal membranes, skin, gut, and other organs are the common denominator of HAID. Mutations in the inflammasome-related genes have been associated with different HAID, showing the intimate link existing between interleukin-1 (IL-1)-structured inflammasome and their pathogenesis. Differential diagnosis of HAID can be challenging, as there are no universally accepted diagnostic protocols, and near half of patients may remain without any genetic abnormality identified. The use of IL-1-antagonists has been associated with beneficial effects in a large number of HAID associated with excessive IL-1 signalling, such as cryopyrin-associated periodic syndromes, familial Mediterranean fever, and deficiency of IL-1 receptor antagonist. This review will discuss about the key-clues of HAID which might guide for an early recognition and drive decisions for treatment.
authors.affiliation: Institute of Pediatrics, Policlinico A. Gemelli, Università Cattolica Sacro Cuore, Largo A. Gemelli 8, 00168 Rome, Italy.
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
authors.affiliation: Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico "Le Scotte", Università di Siena, Viale Bracci 1, 53100 Siena, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Vitale
authors.affiliation: Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico "Le Scotte", Università di Siena, Viale Bracci 1, 53100 Siena, Italy.
authors.forename: Orso Maria
authors.initials: OM
authors.lastname: Lucherini
authors.affiliation: Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico "Le Scotte", Università di Siena, Viale Bracci 1, 53100 Siena, Italy. Electronic address: cantariniluca@hotmail.com.
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini
mesh_terms: D056660:Hereditary Autoinflammatory Diseases / Q000235:genetics / Q000276:immunology*; D006801:Humans; D007113:Immunity, Innate; D007249:Inflammation / Q000276:immunology; D007375:Interleukin-1 / Q000037:antagonists & inhibitors / Q000276:immunology; D058990:Molecular Targeted Therapy; D009154:Mutation
chemical_list: D007375:Interleukin-1
keywords: Autoinflammatory disorder; Fever; Inflammation; Interleukin-1