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

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 gro...

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Detalles Bibliográficos
Autores principales: Galli, Jessica, Cattalini, Marco, Loi, Erika, Ferraro, Rosalba Monica, Giliani, Silvia, Orcesi, Simona, Pinelli, Lorenzo, Badolato, Raffaele, Fazzi, Elisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10390657/
https://www.ncbi.nlm.nih.gov/pubmed/37534202
http://dx.doi.org/10.1002/ccr3.7724
Descripción
Sumario: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.

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