Polyglandular Autoimmune Syndrome, Type 1 (AIRE)

Polyglandular autoimmune syndrome, type 1 is an autosomal recessive disorder caused by pathogenic variants in the gene AIRE. While the disease is diagnosed in populations worldwide, it is more prevalent in Sephardic Jewish individuals from Iran, as well as Finnish and Sardinian individuals. Age of onset is in childhood or adolescence, and clinical features include recurrent fungal infections of the skin and mucous membranes as well as malfunction of the parathyroid and adrenal glands. The glandular dysfunction can result in fatigue and muscle weakness, cramping and tingling, and loss of appetite and weight. With current treatments, many people with polyglandular autoimmune syndrome, type 1 may have a normal life span. Currently, disease severity cannot be predicted based on the inherited variants.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):