Related Experiment Video
Updated: Sep 28, 2026

A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases
Published on: May 29, 2020
Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune
1Department of Internal Medicine I, University Hospital, Frankfurt am Main, Germany.
Abstract:
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare, but well-defined monogenic disorder that is caused by mutations in the autoimmune regulator (AIRE) gene on chromosome 21q22.3. Patients most often suffer from loss of endocrine function in the parathyroid and adrenal glands but may also develop Type 1 diabetes, thyroid disease or hypogonadism. The disease may therefore serve as a model for sporadic endocrine autoimmunity and help to develop new screening and prevention methods. To date at least 46 mutations of AIRE have been identified in affected individuals. Little is known about heterozygosity states but patients with the more prevalent isolated autoimmune endocrinopathies such as Type 1 diabetes, Hashimoto's thyroiditis, Graves' or Addison's disease do not have any of the common mutations. This does not rule out AIRE to be affected either by so far unknown or regulatory variants. The recent characterization of AIRE knockout mice with similar immune pathological findings compared to the human setting will help to elucidate endocrine autoimmunity.
Related Concept Videos
Autoimmune Disorders
Concept and Mechanism of Autoimmune Diseases
The immune system...
Skin Diseases and Disorders
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Smooth Endoplasmic Reticulum
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Type I Diabetes I: Introduction
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Endocarditis II: Clinical Features of Infective Endocarditis