Wonyong Lee, Deborah L Stone, Patrycja Hoffmann, Sofia Rosenzweig, Wanxia Li Tsai, Massimo Gadina, Tina Romeo, Chyi-Chia Richard Lee, Davide Randazzo, Pallavi Pimpale Chavan, Kalpana Manthiram, Scott Canna, Yong Hwan Park, Amanda K Ombrello, Ivona Aksentijevich, Daniel L Kastner, Jae Jin Chae
OBJECTIVES: To study the molecular pathogenesis of PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome, a debilitating hereditary autoinflammatory disease caused by dominant mutation in PSTPIP1 . METHODS: Gene knock-out and knock-in mice were generated to develop an animal model. THP1 and retrovirally transduced U937 human myeloid leukaemia cell lines, peripheral blood mononuclear cells, small interfering RNA (siRNA) knock-down, site-directed mutagenesis, cytokine immunoassays, coimmunoprecipitation and immunoblotting were used to study inflammasome activation...
February 26, 2024: Annals of the Rheumatic Diseases