Open access
Aug 2026
Novel gain-of-function mutation in dysferlin causes vesicle trafficking defect and IL-1 mediated autoinflammation
Dysferlin is identified as a regulator of membrane homeostasis in myeloid cells, defective membrane-stress adaptation as trigger of NLRP3 inflammasome activation is established, and a novel IL-1 mediated autoinflammatory disease caused by gain-of-function DYSF mutations is defined.
Farzana Bhuyan, Clinton J. Bradfield, Amitava Roy et al.
· medRxiv · 0 citations