■巴利替尼,Janus激酶抑制剂(JAK抑制剂),似乎有助于改善受Aicardi-Goutières综合征(AGS)影响的儿童,降低干扰素评分并确定认知恢复,交际,和关系功能障碍,而电机总赤字持续存在。
■我们报告了巴利替尼的治疗反应,JAK抑制剂,一名4岁女孩患有Aicardi-Goutières综合征(AGS2,RNASEH2B突变)。使用定量措施,我们发现了以认知完全恢复为特征的显着改善,交际,从治疗开始8个月和16个月后的关系技能。
UNASSIGNED: Baricitinib, a Janus kinase inhibitor (JAK-inhibitor), seems to contribute to an improvement of a child affected by Aicardi-Goutières syndrome (AGS), reducing the interferon score and determining a recovery of cognitive, communicative, and relational dysfunctions, while the gross motor deficit persisted.
UNASSIGNED: We report the treatment response to baricitinib, a JAK-inhibitor, in a 4-year-old girl affected by Aicardi-Goutières syndrome (AGS2, RNASEH2B mutation). Using quantitative measures, we detected a significant amelioration characterized by a complete recovery of cognitive, communicative, and relational skills after 8 and 16 months from the beginning of therapy.