Invasive saprochaete capitata infection in a patient with autosomal recessive CARD9 deficiency and a review of the literature

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dc.contributor.authorErman, Baran
dc.contributor.authorFırtına, Sinem
dc.contributor.authorAksoy, Başak Adaklı
dc.contributor.authorAydoğdu, Selime
dc.contributor.authorGenç, Gonca Erköse
dc.contributor.authorDoğan, Öner
dc.contributor.authorCipe, Funda Erol
dc.contributor.authorFışgın, Tunç
dc.date.accessioned2021-05-15T11:33:53Z
dc.date.available2021-05-15T11:33:53Z
dc.date.issued2020
dc.departmentTıp Fakültesi, Pediatri Anabilim Dalıen_US
dc.descriptionFIRTINA, Sinem/0000-0002-3370-8545; Aksoy, Basak Adakli/0000-0001-8338-2101; BOZKURT, CEYHUN/0000-0001-6771-9894; Erman, Baran/0000-0001-9398-8465
dc.description.abstractPurpose Autosomal recessive (AR) CARD9 deficiency is an inherited immune disorder which results in impaired innate immunity against various fungi. Superficial and invasive fungal infections, mainly caused by Candida or Trichophyton species, are the hallmark of CARD9 deficiency. Together with the increasing number of CARD9-deficient patients reported, different pathogenic fungal species have been described such as Phialophora, Exophiala, Corynespora, Aureobasidium, and Ochroconis. Saprochaete capitata is an opportunistic infectious agent in immunocompromised patients and is a common cause of invasive fungal disease in patients with hematological malignancies. In this study, we investigated the causative genetic defect in a patient with S. capitata fungal infection which disseminated to lymph nodes and common bile duct. Methods The identification of the isolated yeast strain was made by direct microscopic examination and confirmed by internal transcribed spacer (ITS) sequencing. We applied whole exome sequencing to search for the disease-causing mutation. Sanger sequencing was used to validate the mutation in the patient and his parents. Results S. capitata was isolated from the biopsy specimen as the causative microorganism responsible for the invasive fungal disease in the patient. Whole exome sequencing revealed a homozygous c.883C > T, (p.Q295*) mutation in CARD9, confirmed by Sanger sequencing. Conclusions This is the first report of invasive Saprochaete infection associated with autosomal recessive (AR) CARD9 deficiency in the literature and thereby further extends the spectrum of fungal diseases seen in these patients.en_US
dc.description.sponsorship"Can Sucak Candan Biseyler" Foundation (CSCBF); CSCBFen_US
dc.description.sponsorshipWe would like to thank "Can Sucak Candan Biseyler" Foundation (CSCBF) for their support and contributions during the study. CSCBF was founded in 2018 to honor Can Sucak who lost his life due to complications of primary immunodeficiency. CSCBF supports research in the field of primary immunodeficiency and promotes awareness.en_US
dc.identifier.doi10.1007/s10875-020-00759-w
dc.identifier.endpage474en_US
dc.identifier.issn0271-9142
dc.identifier.issn1573-2592
dc.identifier.issue3en_US
dc.identifier.pmid32020378
dc.identifier.scopus2-s2.0-85079467243
dc.identifier.scopusqualityQ1
dc.identifier.startpage466en_US
dc.identifier.urihttps://doi.org/10.1007/s10875-020-00759-w
dc.identifier.urihttps://hdl.handle.net/20.500.12939/244
dc.identifier.volume40en_US
dc.identifier.wosWOS:000511081700001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorFışgın, Tunç
dc.language.isoen
dc.publisherSpringer/Plenum Publishersen_US
dc.relation.ispartofJournal of Clinical Immunology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPrimary Immunodeficiencyen_US
dc.subjectCARD9 Deficiencyen_US
dc.subjectSaprochaete Infectionen_US
dc.subjectWhole Exome Sequencingen_US
dc.titleInvasive saprochaete capitata infection in a patient with autosomal recessive CARD9 deficiency and a review of the literature
dc.typeArticle

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