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Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

1.5K
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...
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Related Experiment Video

Updated: Jan 24, 2026

A Rapid, Simple, and Standardized Homogenization Method to Prepare Antigen/Adjuvant Emulsions for Inducing Experimental Autoimmune Encephalomyelitis
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Autoimmune Polyendocrinopathy.

Lara Frommer1, George J Kahaly1

  • 1Orphan Disease Center for Autoimmune Polyendocrinopathy, Department of Medicine I, Johannes Gutenberg University Medical Center, Mainz, Germany.

The Journal of Clinical Endocrinology and Metabolism
|May 26, 2019
PubMed
Summary

Autoimmune polyendocrinopathy (AP) is a rare syndrome of autoimmune-induced gland failure. This review updates on AP types, genetics, and diagnosis, emphasizing specialized care for better management.

Area of Science:

  • Endocrinology
  • Immunology
  • Genetics

Background:

  • Autoimmune polyendocrinopathy (AP) is a rare condition characterized by the autoimmune-induced failure of at least two endocrine glands.
  • AP is classified into rare juvenile type I and adult types II-IV, with distinct prevalence rates.
  • Type I is a monogenetic autosomal recessive syndrome linked to AIRE gene mutations, while types II-IV are complex multifactorial syndromes associated with HLA and other immune-related genes.

Purpose of the Study:

  • To provide an updated mini-review on autoimmune polyendocrinopathy (AP).
  • To summarize recent developments in the pathogenesis, immunogenetics, screening, diagnosis, clinical spectrum, and epidemiology of AP.

Main Methods:

  • Systematic literature search for studies on AP.

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  • Review of existing data on AP pathogenesis, immunogenetics, screening, diagnosis, clinical spectrum, and epidemiology.

    • Main Results:

    • AP prevalence varies: 1:100,000 for type I and 1:20,000 for types II-IV.
    • Type I is linked to AIRE gene mutations; types II-IV are associated with HLA, CTLA4, and PTPN22 genes.
    • Clinical manifestations include Addison disease (type II) and type 1 diabetes with autoimmune thyroid disease (type III).

    Conclusions:

    • Genetic screening for AIRE gene mutations is recommended for suspected type I AP.
    • Serological screening for antibodies is crucial for suspected AP in patients with monoglandular autoimmunity.
    • Specialized centers are essential for timely diagnosis, genetic counseling, and long-term management of AP.