Autoimmune regulator
Autoimmune regulator (pronounced: aw-toh-ih-MYOON REG-yuh-lay-tor), often abbreviated as AIRE, is a protein that in humans is encoded by the AIRE gene. It plays a crucial role in the development and functioning of the immune system.
Etymology
The term "autoimmune regulator" is derived from its function. "Autoimmune" refers to the immune system's response against the body's own cells, and "regulator" signifies its role in controlling or managing these responses.
Function
The AIRE protein is primarily expressed in the thymus, an organ that produces T lymphocytes for the immune system. AIRE promotes the presentation of a wide array of bodily proteins to maturing T cells. This process is essential for the immune system to recognize and tolerate the body's own proteins and to prevent autoimmune reactions.
Clinical significance
Mutations in the AIRE gene can lead to a rare disorder known as Autoimmune Polyendocrine Syndrome Type 1 (APS-1), also known as APECED. This condition is characterized by multiple endocrine deficiencies and chronic mucocutaneous candidiasis.
Related terms
- Autoimmunity: The system of immune responses of an organism against its own healthy cells and tissues.
- Thymus: A specialized primary lymphoid organ of the immune system.
- T lymphocytes: A type of white blood cell that play a central role in cell-mediated immunity.
- Autoimmune Polyendocrine Syndrome Type 1 (APS-1): A rare disease caused by mutations in the AIRE gene.
External links
- Medical encyclopedia article on Autoimmune regulator
- Wikipedia's article - Autoimmune regulator
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