Prototheca zopfii Colitis in Inherited CARD9 Deficiency
JOURNAL OF INFECTIOUS DISEASES, cilt.218, sa.3, ss.485-489, 2018 (SCI-Expanded, Scopus)
- 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
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- 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.