Autoimmune polyglandular syndrome type 1 (APS-1/APECED) is caused by mutations in the AIRE (autoimmune regulator) gene, which normally enables thymic medullary epithelial cells to express a broad array of self-proteins so that developing T-cells can be tested for self-reactivity — self-reactive T-cells are then eliminated via apoptosis or converted into regulatory T-cells (Tregs). Loss of AIRE function disrupts this central immune tolerance mechanism, allowing autoreactive T-cells to survive and mediate autoimmune destruction of multiple endocrine and non-endocrine tissues. This is a topic in immunology/endocrinology within clinical medicine, illustrating the broader principle of central tolerance and its failure as a cause of autoimmune disease.
Autoimmune polyglandular syndrome type 1 (APS-1/APECED) is caused by mutations in the AIRE (autoimmune regulator) gene, which normally enables thymic medullary epithelial cells to express a broad arr…