APS TYPE 1 FOUNDATION

We support education, awareness and fundraising for critical research in APS Type 1. 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 a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; fatigue; and even seizures. Adrenal Insufficiency (also known as Addison’s Disease): a malfunction of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison’s Disease include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring. If left untreated, adrenal crisis may occur leading to death. Chronic Mucocutaneous Candidiasis: a fungal infection that affects the skin and mucous membranes, such as the moist lining of the nose and mouth. In children with APS Type 1, these infections last a long time and tend to recur.