Response to Tofacitinib in an Infant with Aicardi-Goutières Syndrome Due to Biallelic Variants in RNU7–1

Aicardi-Goutières syndrome (AGS) is a severe, early-onset neuroinflammatory disease characterized by leukoencephalopathy resulting in developmental delays and neurologic regression. Patients can have extracranial findings including hematologic, cutaneous, and other organ manifestations. AGS is a recognized type I interferonopathy, with evidence of interferon activation in both the central nervous system and blood, leading to attempts to modulate disease using JAnus Kinase (JAK) inhibition.