Prototheca zopfii Colitis in Inherited CARD9 Deficiency

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SARI S., DALGIÇ B., Muehlenbachs A., DeLeon-Carnes M., Goldsmith C. S., EKİNCİ Ö., ...Daha Fazla

JOURNAL OF INFECTIOUS DISEASES, cilt.218, sa.3, ss.485-489, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 218 Sayı: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1093/infdis/jiy198
  • Dergi Adı: JOURNAL OF INFECTIOUS DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.485-489
  • Anahtar Kelimeler: human protothecosis, inherited CARD9 deficiency, whole exome sequencing, colitis, INFECTION, THERAPY
  • Gazi Üniversitesi Adresli: Evet

Özet

Human protothecosis is a rare microalgae infection, and its dissemination typically occurs in immunocompromised individuals, but no specific immune defect has been reported. Here, we describe an 8-year-old daughter of a consanguineous union with abdominal pain and bloody diarrhea for 3 months who was found to have pancolitis with numerous microalgae identified as Prototheca zopfii. In the absence of a known immunodeficiency, exome sequencing was performed, which uncovered a novel recessive frameshift mutation in CARD9 (p.V261fs). This report highlights that CARD9 deficiency should be investigated in patients with unexplained systemic/visceral protothecosis and suggests a new mechanistic insight into anti-Prototheca immunity.