Novel Bi ‐allelic Splice Mutations in CARD9 Causing Adult‐onset Candida Endophthalmitis

ConclusionCARD9 deficiency can present with a phenotype of spontaneous candidal endophthalmitis. We report two novel mutations in CARD9, both affecting splicing, expanding the range of morbid variants causing CARD9 deficiency, emphasizing the importance of both genomic and cDNA sequencing for this condition.This article is protected by copyright. All rights reserved.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1111%2Fmyc.12701

Source: Mycoses - October 1, 2017 Category: Research Authors: Christina Gavino, Sibylle Mellinghoff, Oliver A. Cornely, Marija Landekic, Catherine Le, Melanie Langelier, Makan Golizeh, Susanna Proske, Donald C. Vinh Tags: Single Case Report Source Type: research