Browsing Department of Clinical Science by Author "Babovic-Vuksanovic, Dusica"
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Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes
Oftedal, Bergithe Eikeland; Assing, Kristian; Baris, Safa; Safgren, Stephanie L.; Johansen, Isik S.; Jakobsen, Marianne Antonius; Babovic-Vuksanovic, Dusica; Agre, Katherine; Klee, Eric W.; Majcic, Emina; Ferré, Elise M.N.; Schmitt, Monica M.; DiMaggio, Tom; Rosen, Lindsey B.; Rahman, Muhammad; Chrysis, Dionisios; Giannakopoulos, Aristeidis; Garcia, Maria Tallon; González-Granado, Luis Ignacio; Stanley, Katherine; Galant-Swafford, Jessica; Suwannarat, Pim; Meyts, Isabelle; Lionakis, Michail S.; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2023)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 ...