Universität zu Köln

Gavino, Christina, Mellinghoff, Sibylle ORCID: 0000-0003-3928-2503, Cornely, Oliver A., Landekic, Marija, Le, Catherine, Langelier, Melanie, Golizeh, Makan, Proske, Susanna and Vinh, Donald C. (2018). Novel bi-allelic splice mutations in CARD9 causing adult-onset Candida endophthalmitis. Mycoses, 61 (1). S. 61 - 66. HOBOKEN: WILEY. ISSN 1439-0507

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Abstract

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 underlying systemic disease. We present a patient with spontaneous endophthalmitis of the right eye due to Candida albicans; further investigations revealed concomitant cerebral abscess. She had a history of left endophthalmitis due to the dematiaceous mould, Aureobasidium pullulans, 15years earlier. Targeted sequencing of the CARD9 gene revealed 2 novel variants (c.184G>A and c.288C>T). Analysis in silico predicted each variant altered splicing, which was confirmed by sequencing of cDNA from proband and carrier offsprings: c.184G>A results in a 4-base pair frameshift deletion with loss of allelic expression; c.288C>T results in an in-frame 36-bp pair deletion with detectable protein. CARD9 deficiency can present with a phenotype of spontaneous candidal endophthalmitis. We report 2 novel mutations in CARD9, both affecting splicing, expanding the range of morbid variants causing CARD9 deficiency, emphasising the importance of both genomic and cDNA sequencing for this condition.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Gavino, Christina UNSPECIFIED UNSPECIFIED UNSPECIFIED Mellinghoff, Sibylle UNSPECIFIED orcid.org/0000-0003-3928-2503 UNSPECIFIED Cornely, Oliver A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Landekic, Marija UNSPECIFIED UNSPECIFIED UNSPECIFIED Le, Catherine UNSPECIFIED UNSPECIFIED UNSPECIFIED Langelier, Melanie UNSPECIFIED UNSPECIFIED UNSPECIFIED Golizeh, Makan UNSPECIFIED UNSPECIFIED UNSPECIFIED Proske, Susanna UNSPECIFIED UNSPECIFIED UNSPECIFIED Vinh, Donald C. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-205153
DOI:	10.1111/myc.12701
Journal or Publication Title:	Mycoses
Volume:	61
Number:	1
Page Range:	S. 61 - 66
Date:	2018
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1439-0507
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DEFICIENCY; INNATE; MENINGOENCEPHALITIS; DERMATOPHYTOSIS; FAMILY Multiple languages Dermatology; Mycology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/20515