Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation
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 hypo...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2012-01-01
|
| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2012/353250 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850104204992970752 |
|---|---|
| author | Donatella Capalbo Lucia De Martino Giuliana Giardino Raffaella Di Mase Iolanda Di Donato Giancarlo Parenti Pietro Vajro Claudio Pignata Mariacarolina Salerno |
| author_facet | Donatella Capalbo Lucia De Martino Giuliana Giardino Raffaella Di Mase Iolanda Di Donato Giancarlo Parenti Pietro Vajro Claudio Pignata Mariacarolina Salerno |
| author_sort | Donatella Capalbo |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-49f2d52131a24a7cbcfd0dc363b543df |
| institution | DOAJ |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-49f2d52131a24a7cbcfd0dc363b543df2025-08-20T02:39:22ZengWileyInternational Journal of Endocrinology1687-83371687-83452012-01-01201210.1155/2012/353250353250Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype CorrelationDonatella Capalbo0Lucia De Martino1Giuliana Giardino2Raffaella Di Mase3Iolanda Di Donato4Giancarlo Parenti5Pietro Vajro6Claudio Pignata7Mariacarolina Salerno8Department of Pediatrics, University of Naples Federico II, 80131 Naples, ItalyDepartment of Pediatrics, University of Naples Federico II, 80131 Naples, ItalyDepartment of Pediatrics, University of Naples Federico II, 80131 Naples, ItalyDepartment of Pediatrics, University of Naples Federico II, 80131 Naples, ItalyDepartment of Pediatrics, University of Naples Federico II, 80131 Naples, ItalyDepartment of Pediatrics, University of Naples Federico II, 80131 Naples, ItalyDepartment of Pediatrics, University of Salerno, 84081 Salerno, ItalyDepartment of Pediatrics, University of Naples Federico II, 80131 Naples, ItalyDepartment of Pediatrics, University of Naples Federico II, 80131 Naples, ItalyAutoimmune 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.http://dx.doi.org/10.1155/2012/353250 |
| spellingShingle | Donatella Capalbo Lucia De Martino Giuliana Giardino Raffaella Di Mase Iolanda Di Donato Giancarlo Parenti Pietro Vajro Claudio Pignata Mariacarolina Salerno Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation International Journal of Endocrinology |
| title | Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation |
| title_full | Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation |
| title_fullStr | Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation |
| title_full_unstemmed | Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation |
| title_short | Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation |
| title_sort | autoimmune polyendocrinopathy candidiasis ectodermal dystrophy insights into genotype phenotype correlation |
| url | http://dx.doi.org/10.1155/2012/353250 |
| work_keys_str_mv | AT donatellacapalbo autoimmunepolyendocrinopathycandidiasisectodermaldystrophyinsightsintogenotypephenotypecorrelation AT luciademartino autoimmunepolyendocrinopathycandidiasisectodermaldystrophyinsightsintogenotypephenotypecorrelation AT giulianagiardino autoimmunepolyendocrinopathycandidiasisectodermaldystrophyinsightsintogenotypephenotypecorrelation AT raffaelladimase autoimmunepolyendocrinopathycandidiasisectodermaldystrophyinsightsintogenotypephenotypecorrelation AT iolandadidonato autoimmunepolyendocrinopathycandidiasisectodermaldystrophyinsightsintogenotypephenotypecorrelation AT giancarloparenti autoimmunepolyendocrinopathycandidiasisectodermaldystrophyinsightsintogenotypephenotypecorrelation AT pietrovajro autoimmunepolyendocrinopathycandidiasisectodermaldystrophyinsightsintogenotypephenotypecorrelation AT claudiopignata autoimmunepolyendocrinopathycandidiasisectodermaldystrophyinsightsintogenotypephenotypecorrelation AT mariacarolinasalerno autoimmunepolyendocrinopathycandidiasisectodermaldystrophyinsightsintogenotypephenotypecorrelation |