Short-Term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-Related Aicardi-Goutières Syndrome

This case report highlights the short-term efficacy of tofacitinib, a JAK inhibitor, in an 18-year-old female with Aicardi-Goutières syndrome (AGS7) due to an IFIH1 gene mutation. The patient experienced severe hair loss and autoimmune symptoms, which traditional treatments failed to address. However, after nearly a year of treatment with tofacitinib and methylprednisolone, her condition stabilized, and she experienced normal hair growth. Despite these improvements, normal thyroid function was not restored, and she continued to require thyroxine. The findings suggest that tofacitinib may be effective in managing AGS7 symptoms, but further studies are necessary to confirm its long-term safety and efficacy.