ImmunologybioRxivPreprint
Complement- and inflammasome-mediated autoinflammation-paroxysmal nocturnal hemoglobinuria
Britta Hoechsmann, Yoshiko Murakami, Makiko Osato…·Taroh 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.
DOI 10.1101/635573