Child Neuropsychiatry Unit, National Neurological Institute C. Mondino, Pavia, Italy.
Lupus. 2013 Sep;22(10):1064-9. doi: 10.1177/0961203313498800. Epub 2013 Aug 5.
Aicardi-Goutières syndrome (AGS) is a rare genetic encephalopathy characterized by neurological and extraneurological involvement. A clinical overlap between AGS and systemic lupus erythematosus (SLE) has been reported. We describe an AGS patient who developed autoimmune manifestations: thyroiditis, cANCA positivity, antiphospholipid antibodies and cerebral ischemia. This first description of antiphospholipid syndrome in a TREX1-mutated patient further expands the clinical spectrum of AGS. Although the clinical overlap with SLE may indicate common pathogenic mechanisms, the autoimmune manifestations in AGS are so extensive that we suggest they should be considered a clinical feature of the disease, rather than a sign of coexistent SLE.
Aicardi-Goutières 综合征（AGS）是一种罕见的遗传性脑病，其特征为神经和神经外表现。已有报道称 AGS 与系统性红斑狼疮（SLE）之间存在临床重叠。我们描述了一位 AGS 患者出现自身免疫表现：甲状腺炎、cANCA 阳性、抗磷脂抗体和脑缺血。这是首例 TREX1 突变患者发生抗磷脂综合征的描述，进一步扩展了 AGS 的临床谱。尽管与 SLE 的临床重叠可能表明存在共同的发病机制，但 AGS 中的自身免疫表现如此广泛，以至于我们建议将其视为疾病的临床特征，而不是并存 SLE 的标志。
