Type I interferonopathies: a novel set of inborn errors of immunity
Type I interferonopathies: a novel set of inborn errors of immunity
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DOI：
10.1111/j.1749-6632.2011.06220.x
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发表时间：
2011-01-01
期刊：
影响因子：
--
通讯作者：
Crow, Yanick J.
中科院分区：
文献类型：
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作者：
Crow, Yanick J.
将与I型干扰素上调相关的孟德尔疾病分组的概念目前在医学文献中未得到认可。在这里，我们认为，这样的概念具有科学的有效性和临床实用性。具体来说，我们讨论了一组条件，包括Aicardi-Goutieres综合征，脊椎软骨发育不良，和系统性红斑狼疮与补体缺乏症的情况下，其中上调I型干扰素显然是其发病机制的核心。我们相信，这些疾病可以被认为是一种新的先天性免疫缺陷，并认为这些疾病作为I型干扰素病的识别将有意义的发展和使用的靶向治疗。
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.