Prototheca zopfii Colitis in Inherited CARD9 Deficiency

Creative Commons License

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

JOURNAL OF INFECTIOUS DISEASES, vol.218, no.3, pp.485-489, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 218 Issue: 3
  • Publication Date: 2018
  • Doi Number: 10.1093/infdis/jiy198
  • Journal Name: JOURNAL OF INFECTIOUS DISEASES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.485-489
  • Keywords: human protothecosis, inherited CARD9 deficiency, whole exome sequencing, colitis, INFECTION, THERAPY
  • Gazi University Affiliated: Yes

Abstract

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.