It causes the dysfunction of multiple endocrine glands due to autoimmunity.

It is a genetic disorder, inherited in autosomal recessive fashion due to a defect in the AIRE gene (autoimmune regulator), which is located on chromosome 21 and normally confers immune tolerance.

[7] A 13-base-pair deletion in the AIRE gene, c.967-979del13bp, has been identified in APS-1 patients in Norway, Britain[8] and North America.

Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual.

[13] The JAK-STAT inhibitor ruxolitinib is being investigated as a treatment specifically for its normalizing effect on interferon-gamma.