Pathophysiology of the AIRE gene in autoimmune multiple endocrinopathy: A review of the literature

Abstract

Background: The notions concerning genetics and molecular aspects of medical pathological conditions are usually unknown and relegated to professionals in these areas; however, their knowledge and understanding is of utmost importance, since it allows the understanding of the processes pathophysiologies that explain a disease.

Purpose: To construct a narrative review about the AIRE gene and protein and describe their biological implication in autoimmune multiple endocrinopathy.

Methodology: Review of the literature in the PubMED, Google academic and gray literature databases. Using the MeSH terms: “AIRE protein”, “polyglandular syndrome type 1”, “Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy” and by reviewing bibliographic references in a “snowball” of the selected studies.

Results: AIRE gene located on chromosome 21, encodes the AIRE protein, which is a fundamental piece in the process of negative and agonist selection of T lymphocytes, preventing the escape of autoreactive cells. When a mutation occurs in the pair of alleles that compose this gene, a process of loss of immune tolerance occurs, triggering processes of autoimmunity and primary immunodeficiency in the patient, leading to the development of autoimmune endocrinopathies, ectodermal dystrophies and repeated infections that mend the autoimmune polyglandular syndrome type 1.

Conclusions: Pathogenic variants of the AIRE gene generate highly relevant consequences such as autoimmune alterations and immunodeficiencies. Autoimmune polyglandular syndrome type 1 is an entity that involves different specialties in the medical area, given its wide spectrum of clinical manifestations, hence the importance of its knowledge and index of suspicion.