Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.

Abstract

The autoimmune polyglandular syndrome type 1 (APS1) is caused by pathogenic variants of the autoimmune regulator (AIRE) gene, located in the chromosomal region 21q22.3. The related protein, AIRE, enhances thymic self-representation and immune self-tolerance by localization to chromatin and anchorage to multimolecular complexes involved in the initiation and post-initiation events of tissue-specific antigen-encoding gene transcription. Once synthesized, the self-antigens are presented to, and cause deletion of, the self-reactive thymocyte clones. The clinical diagnosis of APS1 is based on the classic triad idiopathic hypoparathyroidism (HPT)-chronic mucocutaneous candidiasis-autoimmune Addison's disease (AAD), though new criteria based on early non-endocrine manifestations have been proposed. HPT is in most cases the first endocrine component of the syndrome; however, APS1-associated AAD has received the most accurate biochemical, clinical, and immunological characterization. Here is a comprehensive review of the studies on APS1-associated AAD from initial case reports to the most recent scientific findings.

• Authors: Roberto Perniola, Alessandra Fierabracci, Alberto Falorni
• Journal: Frontiers in immunology (Front Immunol) Vol. 12 Pg. 606860 ( 2021) ISSN: 1664-3224 [Electronic] Switzerland
• PMID: 33717087 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2021 Perniola, Fierabracci and Falorni.

Chemical References

• Autoantigens
• Biomarkers

Topics

• Addison Disease (diagnosis, epidemiology, immunology)
• Adolescent
• Adult
• Age of Onset
• Animals
• Autoantigens (immunology)
• Autoimmune Diseases (diagnosis, immunology)
• Autoimmunity
• Biomarkers
• Child
• Child, Preschool
• Diagnosis, Differential
• Disease Management
• Disease Models, Animal
• Disease Susceptibility (immunology)
• Female
• Humans
• Immunity, Cellular
• Immunity, Humoral
• Infant
• Infant, Newborn
• Male
• Middle Aged
• Phenotype
• Polyendocrinopathies, Autoimmune (diagnosis, epidemiology, immunology)
• Prevalence
• Proteomics (methods)
• Young Adult