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Updated: Jan 8, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在一个多重家族与惠普尔病的IRF4单元不足

Sinem Ünal1,2, Stéphanie Dublanc3, Hailun Li1,2

  • 1Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France, EU.

Journal of human immunity
|December 22, 2025
PubMed
概括

在IRF4基因中罕见的遗传变异可以导致惠普尔病 (WD),即使在受Tropheryma whipplei感染的个体. 这一发现确定IRF4哈普洛缺陷是WD发展的关键因素.

关键词:
在 IRF4 基础上,IRF4 是一个 IRF4 项目.托弗里玛 (Tropheryma) 曾经是一个.威普尔病是威普尔的疾病.炎症性类风湿性疾病 炎症性类风湿性疾病

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