SCIENTIFIC BACKGROUND

AIRE

SCIENTIFIC BACKGROUND

APECED syndrome, or autoimmune polyendocrinopathy type 1, is an autosomal recessive inherited autoimmune disease caused by pathogenic variants in the AIRE gene, which is an autoimmune regulatory gene. The disease begins in childhood and is characterized by at least two of the following leading symptoms:

 

  • Addison's disease
  • Hypoparathyroidism
  • chronic candidiasis of the skin and mucous membranes without a generalized infestation

 

Additionally, other endocrine diseases caused by autoimmune processes may develop, such as diabetes mellitus type 1, thyroiditis, and hypergonadotropic hypogonadism. The autoimmunological changes may also affect other organs, resulting, for example, in dystrophy of ectodermal structures (enamel and nail dystrophy, alopecia, vitiligo, keratitis), pernicious anemia in chronic atrophic gastritis, or chronic active hepatitis. However, candidiasis is usually the first symptom. Pathogenic variants in the AIRE gene are detectable in almost all patients with two of the three leading symptoms. APECED is more common in certain populations, such as Finns (1:25,000), Sardinians (1:14,000), and Iraqi Jews (1:9,000). Certain pathogenic variants occur clustered in individual populations. For example, nearly 90% of Finnish affected individuals are carriers of the pathogenic variant Arg257Ter. The AIRE gene comprises 14 exons and is primarily expressed in tissues crucial for the maturation of the immune system, such as the thymus, lymph nodes, and fetal liver.

 

References
Weiler et al. 2018, Clin Immunol 197:231 / Orlova et al. 2017, J Clin Endocrinol Metab 102:3546 / Oftedal et al. 2015, Immunity 42:1185 / Eisenbarth et al. 2004, N Eng J Med 350:2068 / Cihakova et al. 2001, Hum Mutat 18:225 / Ahonen et al. 1990, N Eng J Med 322:1829

GENES

AIRE
How to order

LATEST ARTICLES

February, designated as Cancer Awareness Month, marks a time to reflect on the remarkable progress made in cancer research and to inspire hope for th...

Read more

Introduction Cardiovascular disease (CVD) is a major health issue as it remains a leading cause of death worldwide [1]. CVD is responsible for mor...

Read more

Antimicrobial resistance (AMR) is one of the most pressing global health threats, and accurate identification and surveillance of multidrug-resistant...

Read more

Colorectal cancer remains a significant health concern globally. While genetic factors play a crucial role in its development, identifying the exact ...

Read more

A new meta-analysis links trans-kingdom gut microbiota (bacteria, eukaryotes, viruses, archaea) to immune checkpoint inhibitor (ICI) response in canc...

Read more

Reproductive health is a fundamental aspect of human well-being, affecting individuals and communities worldwide [1]. It encompasses a wide range of ...

Read more

It seems as though everyone is talking about artificial intelligence, usually referred to as AI, these days! Indeed, not only are AI tools now access...

Read more

Orphan drugs are those developed specifically for the treatment of rare diseases. Within the pharmaceutical industry, the drug development process is...

Read more

A study of 629 pregnancies with ultrasound-detected anomalies found that exome sequencing identified pathogenic variants in 14% of cases. The detecti...

Read more

Breast cancer is a type of cancer that originates in the breast cells. Genetic changes in the DNA of the healthy breast cells can lead to the formati...

Read more