title: Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease.
abstract: Autoinflammatory diseases are caused by inflammasome dysregulation leading to overproduction of proinflammatory cytokines and a pathological delay in the inflammation switching off. The progress of cellular biology has partially clarified pathogenic mechanisms behind monogenic autoinflammatory diseases, whereas little is known about the polygenic ones. Although the genetic susceptibility of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy (PFAPA) syndrome is still obscure, the presence of overlapping symptoms with monogenic periodic fevers, the recurrence in family members, the important role played by dysregulated interleukin- (IL-) 1β secretion during flares, the overexpression of inflammasome-associated genes during attacks, and, last but not least, the therapeutic efficacy of IL-1β blockade strongly indicate a potential genetic involvement in its pathogenesis, probably linked with environmental factors. PFAPA syndrome has a typical inception in the pediatric age, but a delayed onset during adulthood has been described as well. Treatments required as well as effectiveness of tonsillectomy remain controversial, even if the disease seems to have a self-limited course mostly in children. The purpose of this review is to provide an overview of this complex polygenic/multifactorial autoinflammatory disorder in which the innate immune system undoubtedly plays a basic role.
authors.affiliation: Pediatric Clinic, University of Brescia, Piazzale Spedali Civili 1, 25123 Brescia, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Cattalini
authors.affiliation: Pediatric Clinic, University of Brescia, Piazzale Spedali Civili 1, 25123 Brescia, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Soliani
authors.affiliation: Institute of Pediatrics, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli 8, 00168 Rome, Italy.
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
authors.affiliation: Interdisciplinary Department of Medicine, University of Bari, Piazza Giulio Cesare 11, 70124 Bari, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Lopalco
authors.affiliation: Interdisciplinary Department of Medicine, University of Bari, Piazza Giulio Cesare 11, 70124 Bari, Italy.
authors.forename: Florenzo
authors.initials: F
authors.lastname: Iannone
authors.affiliation: Research Center of Systemic Autoinflammatory Diseases and Behcet's Disease Clinic, University of Siena, Viale Bracci 1, 53100 Siena, Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Galeazzi
authors.affiliation: Research Center of Systemic Autoinflammatory Diseases and Behcet's Disease Clinic, University of Siena, Viale Bracci 1, 53100 Siena, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D005334:Fever / Q000276:immunology* / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D053583:Interleukin-1beta / Q000378:metabolism; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000276:immunology* / Q000378:metabolism / Q000473:pathology*; D010612:Pharyngitis / Q000276:immunology* / Q000378:metabolism / Q000473:pathology*; D013281:Stomatitis, Aphthous / Q000276:immunology* / Q000378:metabolism / Q000473:pathology*
chemical_list: D053583:Interleukin-1beta