Disease Manifestations APS Type 1 is a rare genetic disorder caused by mutations of the AIRE gene. Mutations in AIRE lead to multi-organ system autoimmunity typified by three classic manifestations: Autoimmune Hypoparathyroidism: a malfunction of the parathyroid glands. These glands secrete a hormone that regulates the body’s use of calcium and phosphorus. Hypoparathyroidism can cause … Continue reading What is APS Type 1?
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