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Blood：Munc13-4蛋白表达法可用于筛查3型家族性嗜血性淋巴细胞增多症（FHL3）

2018-03-17 MedSci MedSci原创

家族性嗜血性淋巴细胞增多症munc13-4蛋白UNC13D错义突变
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家族性嗜血性淋巴细胞增多症（FHL）是遗传性嗜血性淋巴细胞增多症（HLH）的主要类型；就其本身而言，需要及时而精准的诊断。Hirofumi Shibata等人既往发现3型FHL可通过流式细胞术检测血小板的munc13-4的表达而得到快速的筛查；但munc13-4表达法对诊断FHL3的可靠性尚不清楚。无论存在何种类型的UNC13D突变，所有报道的FHL3病例经检测均显示munc13-4蛋白表达量显着

家族性嗜血性淋巴细胞增多症（FHL）是遗传性嗜血性淋巴细胞增多症（HLH）的主要类型；就其本身而言，需要及时而精准的诊断。Hirofumi Shibata等人既往发现3型FHL可通过流式细胞术检测血小板的munc13-4的表达而得到快速的筛查；但munc13-4表达法对诊断FHL3的可靠性尚不清楚。

无论存在何种类型的UNC13D突变，所有报道的FHL3病例经检测均显示munc13-4蛋白表达量显着减少。然而，一些报道的致病性UNC13D错义突变所翻译的munc13-4蛋白的表达量和功能未进行过评估，故其临床意义尚不清楚。

Hirofumi Shibata等人现进行相关研究对munc13-4的表达检测用于筛查FHL3的可靠性进行评估。2011年-2016年，在其实验室共用该方法筛选了108位HLH患者，其中15位FHL3患者全部得到精确的诊断。

为进一步阐明munc13-4表达检测分析是否可靠的鉴定携带UNC13D错义突变的FHL3患者，研究人员建立同种抗原特异性细胞毒性T细胞（CTL）系和一种由从FHL3患者中提取的疱疹病毒所引起的CTL系。研究人员就此对UNC13D突变进行综合性的功能分析。上述细胞系中，UNC13D cDNA结构的瞬时表达使研究人员根据UNC13D cDNA翻译的munc13-4蛋白的表达水平来确定报道的UNC13D错义突变的致病性。

综合既往研究结果，本研究提示munc13-4蛋白表达法是筛查FHL3的可靠方法。

原始出处：

Hirofumi Shibata，et al.Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.Blood  2018  ：blood-2017-10-812503；  doi： https：//doi.org/10.1182/blood-2017-10-812503

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    2018-03-19 wetgdt

    #淋巴细胞#

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    2018-03-19 xuyu

    #蛋白表达#

    0

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    2018-03-19 wetgdt

    #家族性#

    0

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    2018-03-17 忠诚向上

    好好努力.继续学习

    0