Autoimmune polyglandular syndrome type 1 (NORD)
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Autoimmune polyglandular syndrome type 1 (NORD)
Information for patients and families
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Autoimmune polyglandular syndrome type 1 (NORD)
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Autoimmune polyglandular syndrome type 1, also called APS type 1, or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, also called APECED, is a rare, genetically inherited condition.
Autoimmune means that the body’s immune system begins to attack its own tissues, and polyglandular means that multiple hormone-producing organs are affected.
Normally, your body should only react to things that are foreign or not-self.
This is maintained by a process called immune tolerance where only non-self-reactive B-cells and T-cells, are allowed to mature, whereas self-reactive ones aren’t.
For T-cells, this process takes place in the thymus, where a gene called AIRE, or autoimmune regulator, is expressed by thymic medullary epithelial cells.
When T-cells are developing, this gene leads to the production of thousands of the body’s proteins, and this serves as a test to see whether the T-cells react to self proteins.
If one does, that T-cell either undergoes apoptosis and dies, or it becomes a regulatory T-cell, or T-reg, that helps to eliminate other immune cells that react to self antigens.
In APS type 1, there’s a genetic mutation in AIRE that’s usually inherited in an autosomal recessive fashion.
This means that the thymic medullary epithelial cells lose the ability to display the body’s different self-proteins.
Since they can no longer test whether T-cells are self-reactive or not, the process of immune tolerance does not occur normally, and self-reactive T-cells are allowed to live.
Regulatory T-cells are no longer produced normally either, so the body loses a second mechanism for destroying autoimmune cells.
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