Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation

Original paper: rupress.org/je...
Video summary by Benedicte Py (Inserm, CIRI, France)
Functional characterization of 34 NLRP3 variants identifies benign polymorphisms versus a spectrum of gain-of-function pathogenic variants with variable effects and highlights diversities in the signals controlling their activation and sensitivity to inhibitors. This study provides tools for CAPS diagnosis and anti-inflammation drug development and insights on NLRP3 control mechanisms.
Keywords: NLRP3, inflammasome, autoinflammation, CAPS, MCC950, cryopyrin