血细胞性淋巴细胞细胞瘤与一个半性PRF1c.674G>A突变
Xiangke Xin1, Na Wang1, Yicheng Zhang1
1Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
The American journal of the medical sciences
|July 19, 2023
概括
在一个患有血细胞性淋巴细胞瘤 (HLH) 的患者身上发现了一种罕见的PRF1基因突变 (c.674G>A). 这一发现突出了PRF1基因.
科学领域:
- 遗传学和免疫学 遗传学和免疫学
- 分子生物学分子生物学
背景情况:
- 血细胞淋巴细胞瘤 (HLH) 是一种罕见的,危及生命的高炎症综合征,具有显著的发病率和死亡率.
- 遗传变异,特别是像PRF1这样的基因,都与家族性和二次性HLH的发病有关.
- 早期诊断和向治疗对于改善HLH患者的治疗结果至关重要.
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