Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome.

Clinical case reports(2023)

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摘要
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.
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关键词
janus kinase inhibitor,syndrome,treatment
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