Related Experiment Video
Updated: Jun 21, 2026
06:50
A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases
Published on: May 29, 2020
The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy or autoimmune polyglandular syndrome type 1
Tim O Lankisch1, Elmar Jaeckel, Christian P Strassburg
1Department of Gastroenterology, Hepatology, and Endocrinology, Hannover Medical School, 30625 Hannover, Germany.
Seminars in Liver Disease
|August 14, 2009
Summary
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), or autoimmune polyglandular syndrome type 1, is a rare genetic disorder. Diagnosis requires two of three key symptoms: adrenal insufficiency, hypoparathyroidism, and candidiasis.
Area of Science:
- Endocrinology
- Immunology
- Genetics
Background:
- Autoimmune polyglandular syndromes (APS) are rare autoimmune endocrinopathies.
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1), is a distinct subtype.
- APECED is characterized by a combination of endocrine and non-endocrine autoimmune conditions.
Purpose of the Study:
- To describe the clinical and genetic features of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED).
- To differentiate APECED (APS-1) from other autoimmune polyglandular syndromes, particularly APS-2.
- To highlight the diagnostic criteria and management of APECED.
Main Methods:
- Clinical case review and analysis of diagnostic criteria for APECED.
- Genetic analysis focusing on the AIRE gene mutations.
- Review of epidemiological data from affected populations.
Main Results:
- APECED diagnosis requires at least two of three major components: adrenal insufficiency, hypoparathyroidism, and chronic mucocutaneous candidiasis.
- Autoimmune hepatitis is a significant minor clinical feature, affecting up to 20% of patients.
- The AIRE gene is implicated, with genetic alterations causing the syndrome; specific populations like Sardinian, Finnish, and Iranian Jewish individuals show higher prevalence.
Conclusions:
- APECED is a rare, genetically determined autoimmune disorder primarily affecting the endocrine system.
- Early diagnosis and management, focusing on hormone replacement and symptom control, are crucial due to the lack of specific curative therapies.
- Understanding the role of the AIRE gene provides insights into immune tolerance mechanisms.
Related Concept Videos
01:12Type I Diabetes I: Introduction
Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...
01:26Type I Diabetes II: Pathophysiology
Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...
01:19Type I Diabetes III: Clinical Manifestations
Type 1 diabetes mellitus typically presents with rapid-onset symptoms due to the body’s inability to utilize glucose in the absence of insulin. Since insulin is required for glucose uptake into cells, its deficiency leads to hyperglycemia and cellular energy deprivation, resulting in characteristic clinical features.Polyuria and PolydipsiaOne of the earliest, most prominent symptoms is polyuria (excessive urination). When blood glucose concentrations rise above the renal threshold, the kidneys...
01:29Autoimmune Disorders
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune system...
Concept and Mechanism of Autoimmune Diseases
The immune system...
01:19Cushing Syndrome II: Pathophysiology
Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
01:26Cushing Syndrome I: Introduction
Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...