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

Basit Öğe Kaydı
dc.authoridSinem Fırtına / 0000-0002-3370-8545en_US
dc.authoridCeyhun Bozkurt / 0000-0001-6771-9894en_US
dc.authoridBaran Erman / 0000-0001-9398-8465
dc.authoridBaşak Adaklı Aksoy / 0000-0001-8338-2101
dc.authoridFunda Erol Çipe / 0000-0002-9718-7507
dc.authorscopusidBaşak Adaklı Aksoy / 8960776700
dc.authorscopusidCeyhun Bozkurt / 6602784315
dc.authorscopusidSinem Fırtına / 16642650000
dc.authorscopusidBaran Erman / 55214373300
dc.authorscopusidFunda Erol Çipe / 25824763200
dc.authorwosidCeyhun Bozkurt / AAL-5043-2021
dc.authorwosidBaşak Adaklı Aksoy / AAK-3627-2021
dc.authorwosidSinem Fırtına / X-8520-2018
dc.authorwosidBaran Erman / G-1409-2015
dc.authorwosidFunda Erol Çipe / GDE-8701-2022
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.authorBozkurt, Ceyhun
dc.contributor.authorFışgın, Tunç
dc.contributor.authorErol Çipe, Funda
dc.date.accessioned2020-08-30T20:06:16Z
dc.date.available2020-08-30T20:06:16Z
dc.date.issued2020
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_US
dc.descriptionBOZKURT, CEYHUN/0000-0001-6771-9894; FIRTINA, Sinem/0000-0002-3370-8545; Erman, Baran/0000-0001-9398-8465en_US
dc.descriptionErman, Baran ; Firtina, Sinem ; Adakli Aksoy, Basak ; Bozkurt, Ceyhun ; Cipe, Funda Erol (isu author)en_US
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.sponsorshipCan 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.citationErman, B., Fırtına, S., Aksoy, B. A., Aydogdu, S., Genç, G. E., Doğan, Ö., ... & Çipe, F. E. (2020). Invasive Saprochaete capitata Infection in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature. Journal of Clinical Immunology, 1-9.en_US
dc.identifier.doi10.1007/s10875-020-00759-wen_US
dc.identifier.endpage474en_US
dc.identifier.issn0271-9142en_US
dc.identifier.issn1573-2592en_US
dc.identifier.issue3en_US
dc.identifier.pmid32020378en_US
dc.identifier.scopus2-s2.0-85079467243en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage466en_US
dc.identifier.urihttps://doi.org/10.1007/s10875-020-00759-w
dc.identifier.urihttps://hdl.handle.net/20.500.12713/450
dc.identifier.volume40en_US
dc.identifier.wosWOS:000511081700001en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorErman, Baranen_US
dc.institutionauthorFırtına, Sinemen_US
dc.institutionauthorAdaklı Aksoy, Başaken_US
dc.institutionauthorBozkurt, Ceyhunen_US
dc.institutionauthorErol Çipe, Fundaen_US
dc.language.isoenen_US
dc.publisherSpringer/Plenum Publishersen_US
dc.relation.ispartofJournal of Clinical Immunologyen_US
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 literatureen_US
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
181.pdf
Boyut:
1.02 MB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin / Full Text
İndir

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu
Moleküler Biyoloji ve Genetik Bölümü Makale Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu