Functional consequences of pathogenic variant c.61G>C in the inflammasome gene NLRP3 underlying keratitis fugax hereditaria

Conclusions PBMCs from patients with KFH are more prone to secrete IL-1β, confirming the presumption that the c.61G>C is a gain-of-function variant. Furthermore, prednisolone is confirmed as a potent drug to reduce IL-1β secretion in KFH.
Source: British Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Original articles - Laboratory science Source Type: research