Three prime repair exonuclease 1 (TREX1) degrades single- and double-stranded DNA with 3’-5’ exonuclease activity. TREX1 mutations are related to type 1 interferon-mediated autoinflammation owing to accumulated intracellular nucleic acids. Several cases of systemic lupus erythematosus, Aicardi–Goutieres syndrome (AGS), familial chilblain lupus (FCL), and retinal vasculopathy-cerebral leukodystrophy caused by TREX1 mutations have been reported, so far. In this report, we described five patients with TREX1 mutations from three families with three different disorders, which include AGS, FCL, and FCL with central nervous system vasculitis.


中文翻译：

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三种主要修复核酸外切酶1突变的不同临床表现：病例系列


三个主要的修复核酸外切酶1（TREX1）降解具有3'-5'核酸外切酶活性的单链和双链DNA。由于细胞内核酸的积累，TREX1突变与1型干扰素介导的自发炎症有关。迄今为止，已经报道了由TREX1突变引起的几例系统性红斑狼疮，艾卡迪－古特里斯综合症（AGS），家族性小脑性红斑狼疮（FCL）和视网膜血管病-脑白细胞营养不良。在本报告中，我们描述了来自三个家族的三种不同疾病的五名具有TREX1突变的患者，其中包括AGS，FCL和患有中枢神经系统血管炎的FCL。