Article
A rare JAK2 mutation associated with adult-onset Still's disease and exacerbated vaccine-induced innate immune response.
Rheumatology (Oxford, England) - 3 May 2026
Lee Hye Kyung, Gorantla Sivahari Prasad, Haikarainen Teemu, Lee Sung-Gwon, Caf Yasemin, von Bubnoff Nikolas, Silvennoinen Olli, Furth Priscilla A, Knabl Ludwig, Hennighausen Lothar
Abstract excerpt
OBJECTIVES: Adult-onset Still's disease (AOSD) is a rare systemic autoinflammatory disorder involving immune dysregulation. The aetiology of AOSD is unknown and considered to be multigenic and possibly involving environmental triggers. Here, we report the identification of the very rare germline variant JAK2R947Q in a patient with AOSD who showed a hyperactive innate immune response after mRNA vaccination....
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