What is autoimmune polyendocrinopathy?

Updated: Mar 03, 2021
  • Author: Philip R Orlander, MD, FACP; Chief Editor: George T Griffing, MD  more...
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Answer

Autoimmune polyendocrinopathy type I is caused by a mutation in the AIRE gene and is characterized by the presence of Addison disease, hypoparathyroidism, and mucocutaneous candidiasis. A subset of patients with this disease also have a high prevalence of autoimmune thyroiditis and hypothyroidism and a novel mutation in the AIRE gene that is inherited in an autosomal dominant fashion. [21] Autoimmune polyendocrinopathy type 2 (Schmidt syndrome) is associated with adrenal insufficiency and hypothyroidism.


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