Tumienė Birutė, Voisin Norine, Preikšaitienė Eglė, Petroška Donatas, Grikinienė Jurgita, Samaitienė Rūta, Utkus Algirdas, Reymond Alexandre, Kučinskas Vaidutis
Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University, Vilnius, Lithuania.
Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Eur J Med Genet. 2017 Mar;60(3):154-158. doi: 10.1016/j.ejmg.2016.12.004. Epub 2017 Jan 9.
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder belonging to the recently characterized group of type I interferonopathies. The most consistently affected tissues in AGS are the central nervous system and skin, but various organ systems and tissues have been reported to be affected, pointing to the systemic nature of the disease. Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene. The histologically proven inflammatory myopathy in our patient expands the range of clinical features of AGS. Histological signs of muscle biopsies in the proband, and in two other AGS patients described earlier, are similar to those seen in various autoimmune myositises and could be ascribed to inapproapriate IFN I activation. In view of signs of possible mitochondrial damage in AGS, we propose that mitochondrial DNA could be a trigger of autoimmune responses in AGS.
艾卡迪-古铁雷斯综合征（AGS）是一种炎症性疾病，属于最近被明确的I型干扰素病。AGS中最常受影响的组织是中枢神经系统和皮肤，但据报道各种器官系统和组织也会受到影响，这表明该疾病具有全身性。在此，我们描述了一名因TREX1基因纯合p.Arg114His突变而患AGS的患者。我们患者经组织学证实的炎性肌病扩大了AGS的临床特征范围。先证者以及先前描述的另外两名AGS患者的肌肉活检组织学特征与各种自身免疫性肌炎相似，可能归因于I型干扰素的不适当激活。鉴于AGS中可能存在线粒体损伤的迹象，我们提出线粒体DNA可能是AGS自身免疫反应的触发因素。
