ArticleMetabolic brain disease2021
Ruxolitinib in Aicardi-Goutières syndrome.
Article in Metabolic brain disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Effectiveness and Safety of JAK Inhibitors in Autoinflammatory Diseases: A Systematic Review.Frontiers in medicine · 2022Pooled it
- Neonatal Aicardi-Goutières syndrome presenting with macrophage activation syndrome-like hyperinflammation and severe congenital glaucoma: a case report.Pediatric rheumatology online journal · 2026Article
- Control of retrotransposon-driven activation of the interferon response by the double-stranded RNA binding protein DGCR8.Nucleic acids research · 2026Article
- Ribosomal DNA and Neurological Disorders.Current molecular medicine · 2025Review
- Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.Pediatric rheumatology online journal · 2024Article
- A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant.Human genome variation · 2024Article
- Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome.Clinical case reports · 2023Article
- Aicardi-Goutières syndrome (AGS): recurrent fetal cardiomyopathy and pseudo-TORCH syndrome.BMJ case reports · 2022Article
- Characteristics and genetic analysis of patients suspected with early-onset systemic lupus erythematosus.Pediatric rheumatology online journal · 2022Article
- Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.World journal of pediatrics : WJP · 2022Article
- Case Report: Novel Compound HeterozygousFrontiers in immunology · 2021Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aicardi-Goutières Syndrome (AGS) is a monogenic leukodystrophy with pediatric onset, clinically characterized by a variable degree of neurologic impairment. It belongs to a group of condition called type I interferonopathies that are characterized by abnormal overproduction of interferon alpha, an inflammatory cytokine which action is mediated by the activation of two of the four human Janus Kinases. Thanks to an ever-increasing knowledge of the molecular basis and pathogenetic mechanisms of the disease, Janus Kinase inhibitors (JAKIs) have been proposed as a treatment option for selected interferonopathies. Here we reported the 24 months follow-up of the fifth AGS patient treated with ruxolitinib described so far in literature. The treatment was globally well tolerated; clinical examinations and radiological images demonstrated a progressively improving course. It is however to note that patients presenting with mild and spontaneously improving course have been reported. Large natural history studies on AGS spectrum are strongly required in order to get a better understanding of the results emerging from ongoing therapeutic trials on such rare disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.