ArticleCureus2025
Myasthenia Gravis as a Manifestation of Aicardi-Goutières Syndrome Due to a SAMHD1 Variant Successfully Treated With Baricitinib.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.Rheumatology (Oxford, England) · 2026Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aicardi-Goutières syndrome (AGS) is a rare inherited disorder that mainly affects the brain, immune system, and skin. It is caused by mutations that lead to calcium buildup in the brain, which is thought to trigger an immune response. Autoimmune features, such as chilblains, overlap with those seen in systemic lupus erythematosus. We describe a case of a male toddler with an AGS phenotype and a heterozygous mutation in the SAMHD1 gene, who developed juvenile myasthenia gravis (MG) and was successfully treated with baricitinib. To our knowledge, this is the first reported case of AGS associated with MG. The patient showed significant clinical improvement, including resolution of myasthenic symptoms and normalization of autoimmune markers over an 18-month follow-up period. This case highlights the importance of considering broader autoimmune manifestations in AGS and the potential efficacy of Janus kinase (JAK) inhibitors such as baricitinib.
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