title: The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.
abstract: Autoinflammatory disorders (AIDs) are a novel class of diseases elicited by mutations in genes regulating the homeostasis of innate immune complexes, named inflammasomes, which lead to uncontrolled oversecretion of the proinflammatory cytokine interleukin-1β. Protean inflammatory symptoms are variably associated with periodic fever, depicting multiple specific conditions. Childhood is usually the lifetime in which most hereditary AIDs start, though still a relevant number of patients may experience a delayed disease onset and receive a definite diagnosis during adulthood. As a major referral laboratory for patients with recurrent fevers, we have tested samples from 787 patients in the period September 2007-March 2014, with a total of 1,328 AID-related genes evaluated and a gene/patient ratio of 1.69. In this report, we describe our experience in the clinical approach to AIDs, highlight the most striking differences between child and adult-onset AIDs, and shed an eye-opening insight into their diagnostic process.
authors: Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy, cantariniluca@hotmail.com.
authors: Luca
authors: L
authors: Cantarini
authors: Antonio
authors: A
authors: Vitale
authors: Orso Maria
authors: OM
authors: Lucherini
authors: Caterina
authors: C
authors: De Clemente
authors: Francesco
authors: F
authors: Caso
authors: Luisa
authors: L
authors: Costa
authors: Giacomo
authors: G
authors: Emmi
authors: Elena
authors: E
authors: Silvestri
authors: Flora
authors: F
authors: Magnotti
authors: Maria Cristina
authors: MC
authors: Maggio
authors: Eugenia
authors: E
authors: Prinzi
authors: Giuseppe
authors: G
authors: Lopalco
authors: Bruno
authors: B
authors: Frediani
authors: Rolando
authors: R
authors: Cimaz
authors: Mauro
authors: M
authors: Galeazzi
authors: Donato
authors: D
authors: Rigante
mesh_terms: D000328:Adult; D000367:Age Factors; D002648:Child; D003937:Diagnosis, Differential; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics*; D007558:Italy