Complement- and inflammasome-mediated autoinflammation-paroxysmal nocturnal hemoglobinuria
B. Hoechsmann, Y. Murakami, M. Osato, A. Knaus, M. Kawamoto, N. Inoue, T. Hirata, S. Murata, M. Anliker, T. Eggerman, M. Jaeger, R. Floettmann, A. Hoellein, S. Murase, Y. Ueda, , T. Kinoshita
This study identifies AIF-PNH as a disease caused by germline and somatic mutations in PIGT, leading to complement activation and inflammasome-mediated IL-1β secretion, which is treatable with eculizumab.
bioRxiv · May 13, 2019 · PreprintImmunology