AI Article Synopsis
- Aicardi-Goutières syndrome (AGS) is a serious genetic disorder that leads to severe disabilities and increased mortality due to heightened type I interferon activity.
- Janus Kinase (JAK) inhibitors, like baricitinib, have been effective in managing AGS by blocking the harmful effects of interferon, even when treatment starts at a very young age.
- A post-mortem analysis of a patient on baricitinib for over 4 years revealed significant brain damage, indicating the need for better treatment solutions that can reach the central nervous system more effectively.
Article Abstract
Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy characterized by upregulation of type I interferon response. It is associated with increased mortality and severe disabilities. Janus Kinase (JAK) inhibitors have shown effectiveness in treatment of AGS through blocking the downstream effects of interferon activation. We illustrate post-mortem histopathologic findings in a patient with AGS who received baricitinib treatment for a duration of over 4 years, initiating at a remarkably young age of 2 months. We observed global cerebral atrophy, markedly diminished white matter, abundant calcifications involving supratentorial white matter, basal ganglia, dentate nuclei, and brainstem. This study showed profound central nervous system (CNS) sequelae despite early initiation of treatment. Our findings highlight the potential necessity for therapeutic options with enhanced CNS bioavailability.
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| http://dx.doi.org/10.1007/s10875-024-01672-2 | DOI Listing |
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