Repository of Research and Investigative Information

Repository of Research and Investigative Information

Baqiyatallah University of Medical Sciences

Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran

(2020) Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran. Immunol Invest. pp. 299-306. ISSN 0882-0139

Full text not available from this repository.

Official URL: http://apps.webofknowledge.com/InboundService.do?F...

Abstract

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is a rare monogenic autosomal recessive disorder caused by biallelic mutations in the AIRE (autoimmune regulator) gene. Patients with APECED present with heterogeneous endocrine and non-endocrine manifestations. In this study, we report an Iranian patient who presented with Addison disease, chronic mucocutaneous candidiasis, alopecia totalis, keratopathy and asplenia treated as an isolated endocrinopathy for 25 years. In the adulthood, the diagnosis of APECED was made by genetic analysis which demonstrated homozygous nonsense p.R257* (c.769C>T) mutation of AIRE. APECED has been shown to be frequent in some ethnicities including Iranian Jews. Therefore, we reviewed 39 Iranian APECED patients published in the literature. We found that most of the Iranian patients were of Jewish ethnic background and presented hypoparathyroidism, adrenal insufficiency, and candidiasis as the main clinical manifestation.

Item Type: Article
Keywords: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy APECED autoimmune polyendocrine syndrome type 1 APS-1 AIRE chronic mucocutaneous candidiasis polyglandular syndrome type-1 autoimmune regulator Immunology
Page Range: pp. 299-306
Journal or Publication Title: Immunol Invest
Journal Index: ISI
Volume: 49
Number: 3
Identification Number: https://doi.org/10.1080/08820139.2019.1671451
ISSN: 0882-0139
Depositing User: مهندس مهدی شریفی
URI: http://eprints.bmsu.ac.ir/id/eprint/8876

Actions (login required)

View Item View Item