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

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Date

2020

Author

Erman, Baran
Firtina, Sinem
Aksoy, Basak Adakli
Aydogdu, Selime
Genc, Gonca Erkose
Dogan, Oner
Bozkurt, Ceyhun
Fisgin, Tunc
Erol Cipe, Funda

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Citation

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.

Abstract

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.

Source

Journal of Clinical Immunology

Volume

40

Issue

3

URI

https://doi.org/10.1007/s10875-020-00759-w
https://hdl.handle.net/20.500.12713/450

Collections

  • Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu [366]
  • Moleküler Biyoloji ve Genetik Bölümü Makale Koleksiyonu [54]
  • PubMed İndeksli Yayınlar Koleksiyonu [1153]
  • Scopus İndeksli Yayınlar Koleksiyonu [1892]
  • WoS İndeksli Yayınlar Koleksiyonu [1970]



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