Autoimmune polyglandular syndrome type 1




Autoimmune polyglandular syndrome, type 1 is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's tissues and organs by mistake. It is characterized by autoimmune polyendocrinopathy (APE), candidiasis (C) and ectodermal dysplasia (ED).


In most cases, the signs and symptoms of autoimmune polyglandular syndrome, type 1 begin in childhood or adolescence. This condition is characterized by three specific features: mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three.

Mucocutaneous candidiasis is a fungal infection that affects the skin and mucous membranes, such as the moist lining of the nose and mouth. In children with autoimmune polyglandular syndrome, type 1, these infections last a long time and tend to recur. Many affected children also develop hypoparathyroidism, which is 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; and fatigue. The third major feature, Addison disease, results from a malfunction of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring.

Some other symptoms;

  • Abnormality of calcium-phosphate metabolism
  • Abnormality of the cerebral vasculature
  • Abnormality of the fingernails
  • Autoimmunity
  • Hypercortisolism
  • Hypoparathyroidism
  • Opacification of the corneal stroma
  • Photophobia
  • Primary adrenal insufficiency
  • Visual impairment
  • Low blood calcium level
  • Low blood phosphate level
  • Hypoparathyroidism
  • Lack of tooth enamel
  • Loss of hair


Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. This condition is inherited in anautosomal recessive fashion. The AIRE gene provides instructions for making a protein called the autoimmune regulator. As its name suggests, this protein plays a critical role in regulating certain aspects of immune system function. Specifically, it helps the body distinguish its own proteins and cells from those of foreign invaders (such as bacteria and viruses). This distinction is critical because to remain healthy, a person's immune system must be able to identify and destroy potentially harmful invaders while sparing the body's normal tissues.


  • NIH
  • Genetics Home Reference