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Target intelligence / Profile preview
Autoimmune regulator (AIRE)
- Target
- AIRE
- Molecular classification
- Transcription factor, Regulator of immune tolerance
01
Overview
The autoimmune regulator (AIRE) is a transcription factor primarily expressed in the medullary thymic epithelial cells. Its function is to eliminate self-reactive T cells during their development, ensuring immune tolerance to the body's own tissues. Loss or mutation of AIRE leads to autoimmunity, including autoimmune polyendocrine syndrome type I. There is no established direct therapeutic targeting of AIRE, but it is a vital regulator of immune self-tolerance and its gene is a biomarker for several autoimmune syndromes
- Other names
- AIRE1AIRE_HUMANAPECEDAPS1APSIAutoimmune polyendocrinopathy candidiasis ectodermal dystrophy proteinPGA1
02
Mechanism of action
Not applicable for drugs, but biological mechanism involves expression of tissue-restricted antigens in thymic epithelial cells driving central immune tolerance through negative thymic selection
03
Biological functions
Negative selection of self-reactive T cells (immune tolerance)Induction of expression of tissue-restricted antigens in the thymusApoptosis of auto-reactive T cells
04
Disease associations
Autoimmunity (deficiency leads to various autoimmune diseases such as autoimmune polyglandular syndrome type I)Inflammation (associated with immune dysregulation)
05
Safety considerations
Deficiency or genetic mutation leads to loss of immune tolerance, causing serious autoimmune diseases (attack of self tissues such as glands and skin)
06
Biomarkers
Mutations in the AIRE gene (used for diagnosis of Autoimmune polyglandular syndrome type I and other conditions)
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