期刊
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY I
卷 1238, 期 -, 页码 91-98出版社
BLACKWELL SCIENCE PUBL
DOI: 10.1111/j.1749-6632.2011.06220.x
关键词
type I interferon; interferonopathy; Aicardi-Goutieres syndrome; spondyloenchondrodysplasia; systemic lupus erythematosus
The concept of grouping Mendelian disorders associated with an upregulation of type I interferon is not currently recognized in the medical literature. Here, we argue that such a concept has scientific validity and clinical utility. Specifically, we discuss a group of conditions, including Aicardi-Goutieres syndrome, spondyloenchondrodysplasia, and cases of systemic lupus erythematosus with complement deficiency, in which an upregulation of type I interferons is apparently central to their pathogenesis. We believe that these diseases can usefully be considered to represent a novel set of inborn errors of immunity, and that the recognition of such diseases as type I interferonopathies will have significance in the development and use of targeted therapies.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据