Autoimmune polyglandular syndrome type 1 (APS1) is an inherited disease leading to the immune system attacking healthy cells, especially hormone-producing glands.
Common symptoms include chronic mucocutaneous candidiasis (fungal infections of the skin and mucous membranes), hypoparathyroidism (decreased parathyroid gland function), and Addison’s disease (decreased adrenal gland function). Many individuals with APS1 experience all three main symptoms. Recurrent and persistent fungal infections usually emerge before age 5, while hypoparathyroidism typically develops by age 10, leading to symptoms like tingling, muscle cramps, and weakness. By age 15, under-active adrenal glands can cause fatigue, muscle weakness, weight loss, low blood pressure, and changes in skin color. APS1 can also result in other symptoms such as chronic liver disease, extreme fatigue, hair loss, digestive issues, and eye problems, with the severity and exact symptoms varying among individuals.
APS1 is caused by pathogenic (disease-causing) variants in the AIRE gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic Jewish descent have a 1 in 48 chance to be a carrier.
Other names for this condition are autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy, polyglandular autoimmune syndrome, type 1, and polyglandular type I autoimmune syndrome.