Key Clinical MessageBaricitinib, a Janus kinase inhibitor (JAK-inhibitor), seems to contribute to an improvement of a child affected by Aicardi-Goutieres syndrome (AGS), reducing the interferon score and determining a recovery of cognitive, communicative, and relational dysfunctions, while the gross motor deficit persisted. We report the treatment response to baricitinib, a JAK-inhibitor, in a 4-year-old girl affected by Aicardi-Goutieres 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.

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

Galli, Jessica;Cattalini, Marco;Loi, Erika;Ferraro, Rosalba Monica;Giliani, Silvia;Pinelli, Lorenzo;Badolato, Raffaele;Fazzi, Elisa
2023-01-01

Abstract

Key Clinical MessageBaricitinib, a Janus kinase inhibitor (JAK-inhibitor), seems to contribute to an improvement of a child affected by Aicardi-Goutieres syndrome (AGS), reducing the interferon score and determining a recovery of cognitive, communicative, and relational dysfunctions, while the gross motor deficit persisted. We report the treatment response to baricitinib, a JAK-inhibitor, in a 4-year-old girl affected by Aicardi-Goutieres 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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11379/597349
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