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• W2795463930 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." @default.
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• W2795463930 date "2018-04-06" @default.
• W2795463930 modified "2023-10-16" @default.
• W2795463930 title "Prototheca zopfii Colitis in Inherited CARD9 Deficiency" @default.
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• W2795463930 doi "https://doi.org/10.1093/infdis/jiy198" @default.
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