Invasive saprochaete capitata Infection in a patient with autosomal recessive CARD9 deficiency and a review of the literature
Yükleniyor...
Dosyalar
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer/Plenum Publishers
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Purpose 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.
Açıklama
BOZKURT, CEYHUN/0000-0001-6771-9894; FIRTINA, Sinem/0000-0002-3370-8545; Erman, Baran/0000-0001-9398-8465
Erman, Baran ; Firtina, Sinem ; Adakli Aksoy, Basak ; Bozkurt, Ceyhun ; Cipe, Funda Erol (isu author)
Erman, Baran ; Firtina, Sinem ; Adakli Aksoy, Basak ; Bozkurt, Ceyhun ; Cipe, Funda Erol (isu author)
Anahtar Kelimeler
Primary Immunodeficiency, Card9 Deficiency, Saprochaete Infection, Whole Exome Sequencing
Kaynak
Journal of Clinical Immunology
WoS Q Değeri
Q1
Scopus Q Değeri
Q1
Cilt
40
Sayı
3
Künye
Erman, 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.
