由于CARMIL2中的新双变异导致的二次膜性脏病和免疫缺陷
Lakshmi Priya Rao1, Vishaka Kothiwale1, Periyasamy Radhakrishnan1
1Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Indian journal of nephrology
|December 9, 2024
概括
卡米尔2基因变异导致免疫缺陷58,影响T/B/NK细胞功能. 这项研究确定了一种与膜性病相关的新型CARMIL2变异,扩大了已知的疾病谱.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 遗传学 是一个
- 腎臟病學 (nephrology) 是一種醫學.
背景情况:
- 卡米尔2 (细胞质封闭蛋白,Arp2/3和肌-I链接蛋白2) 对于T/B/NK细胞功能至关重要.
- 在CARMIL2中双基致病变体与免疫缺陷58有关.
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