Autoimmune Polyglandular Syndrome Type 1

What Your Test Results Mean:

Carriers typically show no symptoms of autoimmune polyglandular syndrome type 1; however, carriers are at an increased risk of having a child with autoimmune polyglandular syndrome type 1. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.

Disease Explained:

Autoimmune polyglandular syndrome type 1 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. Pathogenic variants 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.

Treatment for autoimmune polyglandular syndrome type 1 includes hormone replacement therapy to replace the insufficient amounts being made by the adrenal glands. Treatment of mucocutaneous candidiasis can be challenging but success has been found with ketoconazole. Oral calcium and vitamin D are usually adequate therapy for hypoparathyroidism.

How the Genetics Works:

Autoimmune polyglandular syndrome type 1 is an autosomal recessive disorder caused by pathogenic variants in the AIRE gene. All individuals have two copies of the AIRE gene. Carriers of autoimmune polyglandular syndrome type 1 have a variant in one copy of the AIRE gene while individuals with autoimmune polyglandular syndrome type 1 have variants in both copies of AIRE, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.

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