title: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation.
abstract: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disease, caused by mutations of a single gene named autoimmune regulator gene (AIRE) which results in a failure of T cell tolerance within the thymus. Chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease are the hallmarks of the syndrome. APECED is also characterized by several autoimmune endocrine and nonendocrine manifestations, and the phenotype is often complex. Moreover, even though APECED is a monogenic disease, its clinical picture is generally dominated by a wide heterogeneity both in the severity and in the number of components even among siblings with the same AIRE genotype. The variability of its clinical expression implies that diagnosis can be challenging, and a considerable delay often occurs between the appearance of symptoms and the diagnosis. Since a prompt diagnosis is essential to prevent severe complications, clinicians should be aware of all symptoms and signs of suspicion. The aim of this paper is to give an overview on the clinical presentation and diagnostic criteria of APECED and to focus on current knowledge on genotype-phenotype correlation.
authors.affiliation: Department of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Capalbo
authors.forename: Lucia
authors.initials: L
authors.lastname: De Martino
authors.forename: Giuliana
authors.initials: G
authors.lastname: Giardino
authors.forename: Raffaella
authors.initials: R
authors.lastname: Di Mase
authors.forename: Iolanda
authors.initials: I
authors.lastname: Di Donato
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.forename: Pietro
authors.initials: P
authors.lastname: Vajro
authors.forename: Claudio
authors.initials: C
authors.lastname: Pignata
authors.forename: Mariacarolina
authors.initials: M
authors.lastname: Salerno