Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome.
Jessica GalliMarco CattaliniErika LoiRosalba Monica FerraroSilvia GilianiSimona OrcesiLorenzo PinelliRaffaele BadolatoElisa FazziPublished in: Clinical case reports (2023)
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.