ReviewInternational journal of molecular sciences2016
Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED): A "Rare" Manifestation in a "Rare" Disease.
Review in International journal of molecular sciences, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 47 citations in OpenAlex.
- Use of Teplizumab to Modulate Stage 2 Type 1 Diabetes in Two Individuals With Autoimmune Polyendocrine Syndrome 1.Diabetes care · 2026Article
- Intravenous Glucose Tolerance Tests in Predicting Diabetes Onset in APECED: A Retrospective Cohort Study.Journal of the Endocrine Society · 2026Article
- New Perspectives in Studying Type 1 Diabetes Susceptibility Biomarkers.International journal of molecular sciences · 2025Review
- The Putative Role ofInternational journal of molecular sciences · 2024Article
- Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1-A Case Study and Literature Review.Journal of clinical medicine · 2024Review
- Type 1 Diabetes Mellitus and Autoimmune Diseases: A Critical Review of the Association and the Application of Personalized Medicine.Journal of personalized medicine · 2023Review
- Characterisation of APS-1 Experimental Models Is Crucial for Development of Novel Therapies.BioMed research international · 2023Article
- In Search for the Missing Link in APECED-like Conditions: Analysis of theJournal of clinical medicine · 2022Article
- Pathogenesis of Autoimmune Hepatitis-Cellular and Molecular Mechanisms.International journal of molecular sciences · 2021Review
- Hypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1.Journal of the Endocrine Society · 2021Article
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.Journal of endocrinological investigation · 2021Article
- Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?Italian journal of pediatrics · 2021Article
- Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.Journal of endocrinological investigation · 2021Review
- Article
- The heterogeneous pathogenesis of type 1 diabetes mellitus.Nature reviews. Endocrinology · 2019Review
- Hyperkalemia in a patient with myasthenia gravis: case presentation.BMC endocrine disorders · 2019Article
- Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.Current diabetes reports · 2018Review
- Type 1 Diabetes and Its Multi-Factorial Pathogenesis: The Putative Role of NK Cells.International journal of molecular sciences · 2018Review
- Meta-Analysis of Autoimmune Regulator-Regulated Genes in Human and Murine Models: A Novel Human Model Provides Insights on the Role of Autoimmune Regulator in Regulating STAT1 and STAT1-Regulated Genes.Frontiers in immunology · 2018Article
- A Novel Homozygous Mutation of theFrontiers in immunology · 2018Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.