Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy : Insights into Genotype-Phenotype Correlation
Joint Authors
Vajro, Pietro
Salerno, Mariacarolina
Pignata, Claudio
Di Mase, Raffaella
Di Donato, Iolanda
De Martino, Lucia
Giardino, Giuliana
Capalbo, Donatella
Parenti, Giancarlo
Source
International Journal of Endocrinology
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-10-22
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Capalbo, Donatella& De Martino, Lucia& Giardino, Giuliana& Di Mase, Raffaella& Di Donato, Iolanda& Parenti, Giancarlo…[et al.]. 2012. Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy : Insights into Genotype-Phenotype Correlation. International Journal of Endocrinology،Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-465211
Modern Language Association (MLA)
Capalbo, Donatella…[et al.]. Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy : Insights into Genotype-Phenotype Correlation. International Journal of Endocrinology No. 2012 (2012), pp.1-9.
https://search.emarefa.net/detail/BIM-465211
American Medical Association (AMA)
Capalbo, Donatella& De Martino, Lucia& Giardino, Giuliana& Di Mase, Raffaella& Di Donato, Iolanda& Parenti, Giancarlo…[et al.]. Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy : Insights into Genotype-Phenotype Correlation. International Journal of Endocrinology. 2012. Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-465211
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-465211