{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T06:29:13Z","timestamp":1762324153504,"version":"3.37.3"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,10,17]],"date-time":"2017-10-17T00:00:00Z","timestamp":1508198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008322","name":"CSL Behring","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000156","name":"Fonds de Recherche du Qu\u00e9bec - Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mycoses"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">CARD<\/jats:styled-content>9 deficiency (<jats:styled-content style=\"fixed-case\">CANDF<\/jats:styled-content>2; <jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content># 212050) is an autosomal\u2010recessive 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 <jats:italic>Candida<\/jats:italic> 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 <jats:italic>Candida albicans<\/jats:italic>; further investigations revealed concomitant cerebral abscess. She had a history of left endophthalmitis due to the dematiaceous mould, <jats:italic>Aureobasidium pullulans<\/jats:italic>, 15\u00a0years earlier. Targeted sequencing of the <jats:italic><jats:styled-content style=\"fixed-case\">CARD<\/jats:styled-content>9<\/jats:italic> gene revealed 2 novel variants (c.184G&gt;A and c.288C&gt;T). Analysis in silico predicted each variant altered splicing, which was confirmed by sequencing of <jats:styled-content style=\"fixed-case\">cDNA<\/jats:styled-content> from proband and carrier offsprings: c.184G&gt;A results in a 4\u2010base pair frameshift deletion with loss of allelic expression; c.288C&gt;T results in an in\u2010frame 36\u2010bp pair deletion with detectable protein. <jats:styled-content style=\"fixed-case\">CARD<\/jats:styled-content>9 deficiency can present with a phenotype of spontaneous candidal endophthalmitis. We report 2 novel mutations in <jats:italic><jats:styled-content style=\"fixed-case\">CARD<\/jats:styled-content>9<\/jats:italic>, both affecting splicing, expanding the range of morbid variants causing <jats:styled-content style=\"fixed-case\">CARD<\/jats:styled-content>9 deficiency, emphasising the importance of both genomic and <jats:styled-content style=\"fixed-case\">cDNA<\/jats:styled-content> sequencing for this condition.<\/jats:p>","DOI":"10.1111\/myc.12701","type":"journal-article","created":{"date-parts":[[2017,10,6]],"date-time":"2017-10-06T14:12:43Z","timestamp":1507299163000},"page":"61-65","source":"Crossref","is-referenced-by-count":22,"title":["Novel bi\u2010allelic splice mutations in <i><scp>CARD<\/scp>9<\/i> causing adult\u2010onset <i>Candida<\/i> endophthalmitis"],"prefix":"10.1111","volume":"61","author":[{"given":"Christina","family":"Gavino","sequence":"first","affiliation":[{"name":"Infectious Disease Susceptibility Program McGill University Health Centre (MUHC) and Research Institute\u2010MUHC (RI\u2010MUHC)  Montr\u00e9al QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sibylle","family":"Mellinghoff","sequence":"additional","affiliation":[{"name":"CECAD Cluster of Excellence Department I for Internal Medicine University Hospital University of Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9599-3137","authenticated-orcid":false,"given":"Oliver A.","family":"Cornely","sequence":"additional","affiliation":[{"name":"CECAD Cluster of Excellence Department I for Internal Medicine University Hospital University of Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marija","family":"Landekic","sequence":"additional","affiliation":[{"name":"Infectious Disease Susceptibility Program McGill University Health Centre (MUHC) and Research Institute\u2010MUHC (RI\u2010MUHC)  Montr\u00e9al QC 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Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanna","family":"Proske","sequence":"additional","affiliation":[{"name":"CECAD Cluster of Excellence Department I for Internal Medicine University Hospital University of Cologne  Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1347-7767","authenticated-orcid":false,"given":"Donald C.","family":"Vinh","sequence":"additional","affiliation":[{"name":"Infectious Disease Susceptibility Program McGill University Health Centre (MUHC) and Research Institute\u2010MUHC (RI\u2010MUHC)  Montr\u00e9al QC Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,10,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/cti.2016.71"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0810719"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-08-450551"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/cid\/ciu215"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.09.016"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2014.12.1930"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.ppat.1005293"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/INF.0000000000000736"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/INF.0000000000001028"},{"key":"e_1_2_7_11_1","doi-asserted-by":"crossref","first-page":"bcr2015214117","DOI":"10.1136\/bcr-2015-214117","article-title":"Endogenous 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