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: Kawan, S., Backlund, M. P., Immonen, A. T., Kivelä, T. T., Turunen, J. A. Tags: Original articles - Laboratory science Source Type: research
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