Article
Novel bi-allelic splice mutations in CARD9 causing adult-onset Candida endophthalmitis.
Mycoses - 1 Jan 2018
Gavino Christina, Mellinghoff Sibylle, Cornely Oliver A, Landekic Marija, Le Catherine, Langelier Melanie, Golizeh Makan, Proske Susanna, Vinh Donald C
Abstract excerpt
CARD9 deficiency (CANDF2; OMIM# 212050) is an autosomal-recessive monogenic inborn error of immunity conferring susceptibility to invasive fungal diseases, including the very distinct syndrome of spontaneous central nervous system candidiasis, in which opportunistic yeast of the genus Candida infect the central nervous system (either brain parenchyma and/or meninges) in the absence of trauma, chemotherapy or...
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