JAK Inhibition in Aicardi-Goutieres Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.

ABSTRACT: The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically characterized by severe neurological involvement. AGS is considered an immune-mediated disease, poorly responsive to conventional immunosuppression. Premised on a chronic enhancement of type I interferon signaling, JAK1/2 inhibition has been trialed in AGS, with clear improvements in cutaneous and systemic disease manifestations. Contrastingly, treatment efficacy at the level of the neurological system has been less conclusive. Here, we report our real-word approach study of JAK1/2 inhibition in 11 patients with AGS, providing extensive assessments of clinical and radiological status; interferon signaling, including in cerebrospinal fluid (CSF); and drug concentrations in blood and CSF. Over a median fo

SUBMITTER: Fremond ML 

PROVIDER: S-EPMC10175907 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature