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Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

Autor: Oftedal, Bergithe E, Assing, Kristian, Baris, Safa, Safgren, Stephanie L, Johansen, Isik S, Jakobsen, Marianne Antonius, Babovic-Vuksanovic, Dusica, Agre, Katherine, Klee, Eric W, Majcic, Emina, Ferre, Elise MN, Schmitt, Monica M, DiMaggio, Tom, Rosen, Lindsey B, Rahman, Muhammad Obaidur, Chrysis, Dionisio, Giannakopoulos, Aristeidi, Garcia, Maria Tallon, Gonzalez-Granado, Luis Ignacio, Stanley, Katherine, Galant-Swafford, Jessica, Suwannarat, Pim, Meyts, Isabelle, Lionakis, Michail S, Husebye, Eystein S

Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (AIRE) gene. More recently, dominant-negative m

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