由于IL17RC的新型重复变异而导致的孤立的慢性粘膜皮肤候群病
Kosuke Noma1, Miyuki Tsumura1, Tina Nguyen1
1Hiroshima University Graduate School of Biomedical and Health Sciences.
Research square
|August 14, 2023
概括
自体递归IL-17RC缺乏导致慢性粘膜皮肤候群病. 一种新的IL17RC变种被确定为功能丧失,一个新的体外系统现在可以诊断这种罕见的IL-17RC缺乏症.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 遗传学 是一个
背景情况:
- 在IL-17A/F通路中的先天性错误导致慢性粘膜皮肤候群病 (CMC).
- 自体递归 (AR) IL-17RC缺乏症是CMC的罕见原因,对IL17RC变异的诊断工具有限.
- 一名七岁的日本女孩出现了CMC和一种新型同卵性IL17RC变异.
结论:
- 鉴定的IL17RC基因型与患者的CMC表型相关.
- 新的体外系统通过验证IL17RC变异来帮助诊断ARIL-17RC缺乏症.
- 这项研究描述了AR IL-17RC缺乏症的新病例,并提供了有价值的诊断工具.
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