التفاصيل البيبلوغرافية
| العنوان: |
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation |
| المؤلفون: |
Donatella Capalbo, Lucia De Martino, Giuliana Giardino, Raffaella Di Mase, Iolanda Di Donato, Giancarlo Parenti, Pietro Vajro, Claudio Pignata, Mariacarolina Salerno |
| بيانات النشر: |
International Journal of Endocrinology |
| سنة النشر: |
2012 |
| المجموعة: |
Hindawi Publishing Corporation |
| الوصف: |
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. |
| نوع الوثيقة: |
review |
| اللغة: |
English |
| العلاقة: |
https://doi.org/10.1155/2012/353250Test |
| DOI: |
10.1155/2012/353250 |
| الإتاحة: |
https://doi.org/10.1155/2012/353250Test |
| حقوق: |
Copyright © 2012 Donatella Capalbo et al. |
| رقم الانضمام: |
edsbas.23F429C7 |
| قاعدة البيانات: |
BASE |
