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

Abstract

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, 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.

Keywords

• Aicardi‐Goutières syndrome
• baricitinib
• JAK‐inhibitors
• neurodevelopmental outcome