一名患有艾卡迪-古铁雷斯综合征的儿童对Janus激酶抑制剂的治疗反应。
Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome.
作者信息
Galli Jessica, Cattalini Marco, Loi Erika, Ferraro Rosalba Monica, Giliani Silvia, Orcesi Simona, Pinelli Lorenzo, Badolato Raffaele, Fazzi Elisa
机构信息
Department of Clinical and Experimental Sciences University of Brescia Brescia Italy.
Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia Brescia Italy.
出版信息
Clin Case Rep. 2023 Jul 31;11(8):e7724. doi: 10.1002/ccr3.7724. eCollection 2023 Aug.
KEY CLINICAL MESSAGE
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.
ABSTRACT
We report the treatment response to baricitinib, a JAK-inhibitor, in a 4-year-old girl affected by Aicardi-Goutières syndrome (AGS2, 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.
关键临床信息
巴瑞替尼，一种 Janus 激酶抑制剂（JAK 抑制剂），似乎有助于改善一名患有 Aicardi-Goutières 综合征（AGS）的儿童的病情，降低干扰素评分，并使认知、沟通和关系功能障碍得到恢复，而粗大运动功能障碍仍然存在。
摘要
我们报告了一名 4 岁患有 Aicardi-Goutières 综合征（AGS2，突变）女孩对 JAK 抑制剂巴瑞替尼的治疗反应。通过定量测量，我们发现从治疗开始 8 个月和 16 个月后，出现了显著改善，表现为认知、沟通和关系技能完全恢复。
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