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

Sabita KawanMichael Paul BacklundAnnamari Tuulia ImmonenTero Tapani Kivelä Joni Antero Turunen

Published in: The British journal of ophthalmology (2022)

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.

Keyphrases

genome wide
copy number
anti inflammatory
gene expression
genome wide analysis