ArticleMolecular genetics and metabolism2018
Aicardi goutières syndrome is associated with pulmonary hypertension.
Article in Molecular genetics and metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.Annals of the rheumatic diseases · 2022Pooled it
- Janus Kinase Inhibition in the Aicardi-Goutières Syndrome.The New England journal of medicine · 2020Trial
- Endothelial ADAR1 Deficit Induces the NOCT-IRF7 Axis in Pulmonary Hypertension.Circulation research · 2026Article
- Deficiency of Smooth Muscle Adar1 Exacerbates Vascular Remodeling and Pulmonary Hypertension.Circulation research · 2026Article
- Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction.Clinical & translational immunology · 2026Article
- Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.Journal of child neurology · 2025Article
- 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
- Non-Interferon-Dependent Role of STING Signaling in Pulmonary Hypertension.Arteriosclerosis, thrombosis, and vascular biology · 2024Article
- JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.Journal of clinical immunology · 2023Article
- Clinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutières syndrome.World journal of pediatrics : WJP · 2023Review
- Aicardi-Goutières syndrome type 7 in a Chinese child: A case report.World journal of clinical cases · 2023Article
- TREX1 cytosolic DNA degradation correlates with autoimmune disease and cancer immunity.Clinical and experimental immunology · 2023Article
- Aicardi-Goutières syndrome (AGS): recurrent fetal cardiomyopathy and pseudo-TORCH syndrome.BMJ case reports · 2022Article
- Interstitial Lung Disease in Immunocompromised Children.Diagnostics (Basel, Switzerland) · 2022Article
- Hematologic abnormalities in Aicardi Goutières Syndrome.Molecular genetics and metabolism · 2022Article
- Pulmonary Hypertension in the Population with Down Syndrome.Cardiology and therapy · 2022Review
- Case report:Frontiers in immunology · 2022Article
- Hepatic Involvement in Aicardi-Goutières Syndrome.Neuropediatrics · 2021Article
- Emerging Place of JAK Inhibitors in the Treatment of Inborn Errors of Immunity.Frontiers in immunology · 2021Review
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
Abstract
While pulmonary hypertension (PH) is a potentially life threatening complication of many inflammatory conditions, an association between Aicardi Goutières syndrome (AGS), a rare genetic cause of interferon (IFN) overproduction, and the development of PH has not been characterized to date. We analyzed the cardiac function of individuals with AGS enrolled in the Myelin Disorders Bioregistry Project using retrospective chart review (n = 61). Additional prospective echocardiograms were obtained when possible (n = 22). An IFN signature score, a marker of systemic inflammation, was calculated through the measurement of mRNA transcripts of type I IFN-inducible genes (interferon signaling genes or ISG). Pathologic analysis was performed as available from autopsy samples. Within our cohort, four individuals were identified to be affected by PH: three with pathogenic gain-of-function mutations in the IFIH1 gene and one with heterozygous TREX1 mutations. All studied individuals with AGS were noted to have elevated IFN signature scores (Mann-Whitney p < .001), with the highest levels in individuals with IFIH1 mutations (Mann-Whitney p < .0001). We present clinical and histologic evidence of PH in a series of four individuals with AGS, a rare interferonopathy. Importantly, IFIH1 and TREX1 may represent a novel cause of PH. Furthermore, these findings underscore the importance of screening all individuals with AGS for PH.
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Registered trials
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