Efficacia degli inibitori JAK1/2 nei pazienti con interferonopatie legate al gene AGS: Uno studio osservazionale retrospettivo multicentrico con confronto trattato/non trattato.

Aicardi-Goutières syndrome (AGS) and genes-related interferonopathies are a group of multisystem disorders involving the central nervous system, caused by pathogenic variants in genes regulating nucleic acid metabolism and type I interferon signaling, leading to chronic interferon overproduction. This retrospective multicenter study analyzed the efficacy and safety of Janus kinase 1/2 (JAK1/2) inhibitors in 12 patients treated with Baricitinib or Ruxolitinib, compared with 20 untreated patients. Treatment showed improvement in immunological and dermatological symptoms, while the impact on neurological manifestations was limited and heterogeneous, with greater benefits in patients with mild o