一种新的功能性IKBKE变体激活NFAT在患有多关节炎和转发性发烧的患者中
Saeko Yamada1, Yasuo Nagafuchi1,2, Mamiko Yamada3
1Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Frontiers in immunology
|November 11, 2024
概括
在患有慢性自身炎症性疾病的患者中发现了IKBKE基因的新型变异. 这种IKBKE变体破坏了T细胞信号传递,这表明了自身炎症病理学的新原因.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- IKBKE负面调节T细胞激活,并参与I型干扰素 (IFN) 和NFκB信号传递.
- 一种常见的IKBKE变体 (rs2297550-G) 与全身性红斑狼和T细胞中IKBKE表达的减少有关.
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