Department of Pediatrics, Division of Gastroenterology, Gazi University, Faculty of Medicine, Ankara, Turkey.
Infectious Diseases Pathology Branch, Centers for Disease Control and Prevention, Atlanta, Georgia.
J Infect Dis. 2018 Jul 2;218(3):485-489. doi: 10.1093/infdis/jiy198.
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.
人体 protothecosis 是一种罕见的微藻类感染，其传播通常发生在免疫功能低下的个体中，但尚未报道有特定的免疫缺陷。在这里，我们描述了一例 8 岁女儿，她与近亲结婚，患有腹痛和血性腹泻 3 个月，被发现患有全结肠炎，大量微藻类被鉴定为 Prototheca zopfii。在没有已知免疫缺陷的情况下，进行了外显子组测序，发现 CARD9 中存在一种新的隐性移码突变（p.V261fs）。本报告强调，对于原因不明的系统性/内脏 protothecosis 患者，应调查 CARD9 缺乏症，并为抗 Prototheca 免疫提供新的机制见解。
