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Int. J. Mol. Sci. 2016, 17(7), 1106; doi:10.3390/ijms17071106

Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED): A “Rare” Manifestation in a “Rare” Disease

Infectivology and Clinical Trials Area, Children’s Hospital Bambino Gesù, Rome 00146, Italy
Academic Editor: Toshiro Arai
Received: 13 May 2016 / Accepted: 1 July 2016 / Published: 12 July 2016
(This article belongs to the Special Issue Molecular Research on Obesity and Diabetes)
View Full-Text   |   Download PDF [232 KB, uploaded 12 July 2016]

Abstract

Type 1 autoimmune polyglandular syndrome (APS1) is a rare autosomal recessive disease, caused by mutations in the autoimmune regulator gene (AIRE); the encoded Aire protein plays an important role in the establishment of the immunological tolerance acting as a transcriptional regulator of the expression of organ-specific antigens within the thymus in perinatal age. While a high prevalence for this rare syndrome is reported in Finland and Scandinavia (Norway), autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) cohorts of patients are also detected in continental Italy and Sardinia, among Iranian Jews, as well as in other countries. The syndrome is diagnosed when patients present at least two out of the three fundamental disorders including chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison’s disease. Among the associated conditions insulin-dependent diabetes mellitus (Type 1 diabetes) has been rarely reported in different series of patients and occurring more frequently in Finnish APECED patients. In this review, we analyze the incidence of Type 1 diabetes as a clinical manifestation of APECED in different populations highlighting the peculiar genetic and immunological features of the disease when occurring in the context of this syndrome. View Full-Text
Keywords: Type 1 diabetes; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED); immunologic features; genetics; etiopathogenesis Type 1 diabetes; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED); immunologic features; genetics; etiopathogenesis
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Fierabracci, A. Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED): A “Rare” Manifestation in a “Rare” Disease. Int. J. Mol. Sci. 2016, 17, 1106.

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