Autoimmune polyendocrinopathy is a group of rare disorders caused by an immune system that mistakenly attacks and destroys different organs and tissues in the body. These conditions can affect the endocrine system, which is responsible for producing hormones, and can cause a wide range of symptoms. There are several different types of autoimmune polyendocrinopathy, each with its own set of symptoms.
Types of Autoimmune Polyendocrinopathy
Type 1 Autoimmune Polyendocrinopathy (APS-1)
Type 1 Autoimmune Polyendocrinopathy is a rare disorder that is passed down through families. It is caused by mutations in the AIRE gene, which normally helps the body recognize its own tissues and prevent the immune system from attacking them. People with APS-1 have a defect in this gene, leading to an overactive immune system that attacks tissues in the body. This can lead to a wide range of symptoms, including hypoparathyroidism, Addison's disease, chronic mucocutaneous candidiasis, and vitiligo.
Type 2 Autoimmune Polyendocrinopathy (APS-2)
Type 2 Autoimmune Polyendocrinopathy is a rare disorder that is caused by mutations in the AIRE gene. It is characterized by an overactive immune system that attacks the thyroid gland, leading to an underactive thyroid (hypothyroidism). It can also cause Addison's disease, pernicious anemia, and other autoimmune disorders.
Type 3 Autoimmune Polyendocrinopathy (APS-3)
Type 3 Autoimmune Polyendocrinopathy is a rare disorder caused by mutations in the STAT4 gene. It is characterized by an overactive immune system that attacks the thyroid gland, leading to an underactive thyroid (hypothyroidism). It can also cause alopecia areata, vitiligo, and other autoimmune disorders.
Type 4 Autoimmune Polyendocrinopathy (APS-4)
Type 4 Autoimmune Polyendocrinopathy is a rare disorder caused by mutations in the PTPN22 gene. It is characterized by an overactive immune system that attacks the thyroid gland, leading to an underactive thyroid (hypothyroidism). It can also cause type 1 diabetes, rheumatoid arthritis, and other autoimmune disorders.