What Your Test Results Mean:

Carriers typically show no symptoms. You and your partner would both have to be carriers of autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.

Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.

Disease Explained:

Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy is an inherited disorder that affects many of the body’s organs. The AIRE gene is involved in regulating certain aspects of immune system function. Variations in the AIRE gene result in autoimmunity, which can cause inflammation and damage to healthy cells and tissues, specifically the adrenal glands and parathyroid glands. Symptoms usually appear in early childhood or adolescence and include hypoparathyroidism, mucocutaneous candidiasis, and Addison’s disease. Affected individuals usually have at least two of these features, and many have all three. Mucocutaneous candidiasis is a chronic fungal infection that affects the skin and mucous membranes. Hypoparathyroidism and Addison’s disease can cause muscle pain, fatigue, weight loss, and low blood pressure.

Prognosis:

Prognosis depends on the severity of symptoms. Early detection and treatment of the disease are important for achieving the optimum quality of life. Life expectancy may be decreased due to complications from symptoms.

Treatment:

Prognosis depends on the severity of symptoms. Early detection and treatment of the disease are important for achieving the optimum quality of life. Life expectancy may be decreased due to complications from symptoms.