Whitaker syndrome also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is an autoimmune disease caused by problems with T cells. T cells are a type of white blood cell that is produced in the thymus (the gland between the lungs). In healthy individuals, T cells that are likely to attack the body are destroyed in the thymus. In individuals with Whitaker syndrome, a protein called the autoimmune regulator is not produced properly in the thymus. This causes dangerous T cells to escape the thymus and attack the body’s own tissues.
The onset of Whitaker syndrome usually happens in childhood. Three main symptoms are associated with Whitaker syndrome: chronic mucocutaneous candidiasis (surface-level infections caused by a fungus called Candida), hypoparathyroidism (when the parathyroid glands (glands that help control calcium levels) do not function properly), and chronic adrenocortical insufficiency (when the outer layer of the adrenal glands (glands on top of the kidneys) do not function properly). Patients with this condition can also develop other conditions including liver disease, ovarian problems, anemia, and diabetes due to the autoimmunity.
Whitaker syndrome is caused by a mutation in the autoimmune regulator (AIRE) gene. It is diagnosed through a blood test that looks for a mutation in the AIRE gene. This diagnosis is usually considered in individuals less than 30 years old who present at least two of the 3 main symptoms of Whitaker’s. Treatment depends on which symptoms occur in a particular individual. Often times, treatment may include replacement therapy for the endocrine hormones that are missing. Specific symptoms of the condition can be treated with various drugs and supplements that serve as replacements. If you or a family member has been diagnosed with Whitaker syndrome, talk to your doctor about the most current treatment options.
Description Last Updated: Feb 06, 2018