ArticleNeuropediatrics2021
Hepatic Involvement in Aicardi-Goutières Syndrome.
Article in Neuropediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 14 citations in OpenAlex.
- Type I Interferonopathies: Fifteen Years On, From Concept to Therapeutic Perspectives.Current rheumatology reports · 2026Review
- Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026Article
- Anifrolumab to Treat Severe Hepatic Involvement in a De Novo IFIH1 Mutation.Journal of clinical immunology · 2026Article
- Review
- Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.Journal of child neurology · 2025Article
- Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.Nature reviews. Rheumatology · 2025Review
- HERV-K10 as a mediator of immune modulation in hepatitis infections.Frontiers in immunology · 2025Article
- The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.Immunological reviews · 2024Review
- Nucleotide metabolism, leukodystrophies, and CNS pathology.Journal of inherited metabolic disease · 2024Review
- IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.JCI insight · 2024Article
- Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).Molecular genetics and metabolism · 2024Article
- Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.Molecular genetics and metabolism · 2024Review
- RelB-deficient autoinflammatory pathology presents as interferonopathy, but in mice is interferon-independent.The Journal of allergy and clinical immunology · 2023Article
- Characteristics and genetic analysis of patients suspected with early-onset systemic lupus erythematosus.Pediatric rheumatology online journal · 2022Article
- Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain.Journal of neuroinflammation · 2021Article
- Systemic complications of Aicardi Goutières syndrome using real-world data.Molecular genetics and metabolismArticle
Corrections and comments
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Authors and funding
10 authors at 1 institution in 2 countries.
Funding
Abstract
Aicardi-Goutières syndrome (AGS) is a monogenic type-I interferonopathy that results in neurologic injury. The systemic impact of sustained interferon activation is less well characterized. Liver inflammation is known to be associated with the neonatal form of AGS, but the incidence of AGS-related hepatitis across lifespan is unknown.We compared natural history data including liver enzyme levels with markers of inflammation, (liver-specific autoantibodies and interferon signaling gene expression[ISG] scores). Liver enzymes were classified as normal or elevated by the fold increase over the upper limit of normal (ULN). The highest increases were designated as hepatitis, defined as aspartate-aminotransferase or alanine-aminotransferase threefold ULN, or gamma-glutamyl transferase 2.5-fold ULN. A larger cohort was used to further characterize the longitudinal incidence of liver abnormalities and the association with age and genotype.Across the AGS cohort (
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Registered trials
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.