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.









Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Polyglandular Autoimmune Syndrome, Type 1AIRE1-3, 6, 8, 10, 11 [14] (*6)ARWorldwide1 in 35485%0.000424808836023789
Polyglandular Autoimmune Syndrome, Type 1AIRE1-3, 6, 8, 10, 11 [14] (*6)ARFinnish1 in 79>95%0.000640614990390775
Polyglandular Autoimmune Syndrome, Type 1AIRE1-3, 6, 8, 10, 11 [14] (*6)ARSardinian1 in 6090%0.00169204737732657
Polyglandular Autoimmune Syndrome, Type 1AIRE1-3, 6, 8, 10, 11 [14] (*6)ARSephardic Jewish – Iranian1 in 27>95%0.00191938579654511