title: Genetic and functional profiling of Crohn's disease: autophagy mechanism and susceptibility to infectious diseases.
abstract: Crohn's disease is a complex disease in which genome, microbiome, and environment interact to produce the immunological background of the disease. Disease in childhood is more extensive and characterized by a rapid progression, leading to severe repercussions in the course of the disorder. Several genetic variations have been associated with an increased risk of developing the disease and most of these are also implicated in other autoimmune disorders. The gut has many tiers of defense against incursion by luminal microbes, including the epithelial barrier and the innate and adaptive immune responses. Moreover, recent evidence shows that bacterial and viral infections, as well as inflammasome genes and genes involved in the autophagy process, are implicated in Crohn's disease pathogenesis. The aim of this review is to establish how much the diagnostic system can improve, thus increasing the success of Crohn's disease diagnosis. The major expectation for the near future is to be able to anticipate the possible consequences of the disease already in childhood, thus preventing associated complications, and to choose the best treatment for each patient.
authors.affiliation: Institute for Maternal and Child Health-IRCCS Burlo Garofolo of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy. marcuzzi@burlo.trieste.it
authors.forename: Annalisa
authors.initials: A
authors.lastname: Marcuzzi
authors.forename: Anna Monica
authors.initials: AM
authors.lastname: Bianco
authors.forename: Martina
authors.initials: M
authors.lastname: Girardelli
authors.forename: Alberto
authors.initials: A
authors.lastname: Tommasini
authors.forename: Stefano
authors.initials: S
authors.lastname: Martelossi
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Monasta
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000818:Animals; D001343:Autophagy / Q000235:genetics*; D003141:Communicable Diseases / Q000235:genetics* / Q000473:pathology*; D003424:Crohn Disease / Q000209:etiology / Q000235:genetics* / Q000473:pathology*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008954:Models, Biological