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RESEARCH PRODUCT

Genetics of Polyglandular Failure

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Publisher Summary This chapter discusses the genetic aspects of polyglandular failure syndromes (APS).The polyglandular failure syndromes comprise of a wide spectrum of autoimmune disorders and encompass a rare juvenile type (APS1) and more frequent adult types (APS2 and APS3). The juvenile type APS1 is also known as autoimmune polyendocrinopathy candidiasis ectodermal dystrophy because it consists of three main disorders, namely chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism and autoimmune Addison's disease. APS2 is defined as the association between Addison's disease and either autoimmune thyroid disease or type 1 diabetes mellitus and APS3 is characterized by the presence of autoimmune thyroid disease and autoimmune disorders other than Addison's disease and hypoparathyroidism. The genetic pathophysiology of APS1 involves mutations in a single gene called autoimmune regulatory gene ( AIRE ) located on chromosome 21. The diagnosis, genetic testing and interpretation as well as serological, functional and prenatal testing are explored. The treatment of APS1 is based on treating the component diseases and is directed at replacing the various hormones that are in short supply and in severe cases of APS1, immunosuppressive therapy may be indicated.