Article
Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1.
Autoimmunity - 1 Jun 2017
Smith-Anttila Casey J A, Bensing Sophie, Alimohammadi Mohammad, Dalin Frida, Oscarson Mikael, Zhang Ming-Dong, Perheentupa Jaakko, Husebye Eystein S, Gustafsson Jan, Björklund Peyman, Fransson Anette, Nordmark Gunnel, Rönnblom Lars, Meloni Antonella, Scott Rodney J, Hökfelt Tomas, Crock Patricia A, Kämpe Olle
Abstract excerpt
Autoimmune polyendocrine syndrome type 1 (APS1) is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. High titer autoantibodies are a characteristic feature of APS1 and are often associated with particular disease manifestations. Pituitary deficits are reported in up to 7% of all APS1 patients, with immunoreactivity to pituitary tissue frequently reported. We aimed...
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