狼性炎模式和对DNASE1L3变体患者的I型干扰素的反应:报告三例病例
Stefano Volpi1, Maria L Angelotti2, Giulia Palazzini2
1Center for Autoinflammatory Diseases and Immunodeficiencies, IRCCS Istituto Giannina Gaslini, Genova, Italy; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Sciences, University of Genova, Genova, Italy.
DNASE1L3中的遗传变异会导致儿童严重的狼性炎,导致功能衰竭. 这表明DNASE1L3相关的脏疾病与I型干扰素反应有关,这证明了有针对性的治疗方法.
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) 是一種醫學專業.
背景情况:
- DNASE1L3变种与自身免疫性疾病,如全身性红斑狼 (SLE) 有关.
- 与DNASE1L3相关的SLE中脏的参与尚未得到充分了解.
- I型干扰素 (IFN-I) 途径与SLE病变发生有关.
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