Definition
A group of genetic autoimmune diseases characterized by autoimmune inflammation in endocrine tissues and other tissues that result in the following endocrine clinical manifestations: hypoparathyroidism, hypogonadism, adrenal insufficiency, insulin-dependent (type 1) diabetes mellitus, and hypothyroidism. Non-endocrine features include alopecia totalis, vitligo, inflammation of the cornea and keratoconjunctivitis, tooth enamel hypoplasia, pernicious anemia, malabsoprtion, hepatitis, and candidiasis. There are three types: Type 1 features hypoparathyroidism, adrenal insufficiency, hypogonadism, vitiligo, and candidiasis. Type 2, previously known as Schmidt syndrome (Schmidt 1926) features adrenal insufficiency, hypothyroidism, and diabetes mellitus. Type 3, also known as Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX)...
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References and Further Reading
Husebye, E. S., Anderson, M. S., & Kampe, O. (2018). Autoimmune polyendocrine syndromes. The New England Journal of Medicine, 378, 1132–1141.
Kahaly, G. J., & Frommer, L. (2018). Polyglandular autoimmune syndromes. Journal of Endocrinological Investigation, 41, 91–98.
Peterson, P., & Peltonen, L. (2005). Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: New views on molecular basis of autoimmunity. Journal of Autoimmunity, 25(Suppl), 49–55.
Schmidt, M. B. (1926). Eine biglandulare Erkrankung (Nebennieren und Schilddrüse) bei Morbus Adisonii. Verhandlungen der Deutschen Gesellschaft für Pathologie, 21, 212–221.
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Asa, S.L. (2020). Polyglandular Autoimmune Syndrome. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_5052-1
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