ReviewClinical rheumatology2017
Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation.
Review in Clinical rheumatology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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.
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
14 citing papers in PubMed, 29 citations in OpenAlex.
- One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.Rheumatology (Oxford, England) · 2026Article
- SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.American journal of medical genetics. Part A · 2024Article
- Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.The neuroradiology journal · 2023Review
- Tocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib.Pediatric rheumatology online journal · 2023Article
- Clinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutières syndrome.World journal of pediatrics : WJP · 2023Review
- Biologic Therapies for the Management of Cutaneous Findings in Genodermatoses: A Review.American journal of clinical dermatology · 2022Review
- Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.International journal of molecular sciences · 2021Review
- Vasculitis, Autoimmunity, and Cytokines: How the Immune System Can Harm the Brain.International journal of environmental research and public health · 2021Review
- Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect.Pediatric rheumatology online journal · 2021Article
- RNF213 and GUCY1A3 in Moyamoya Disease: Key Regulators of Metabolism, Inflammation, and Vascular Stability.Frontiers in neurology · 2021Review
- SAMHD1 Suppression of Antiviral Immune Responses.Trends in microbiology · 2019Review
- From autoinflammation to autoimmunity: old and recent findings.Clinical rheumatology · 2018Review
- SAMHD1 suppresses innate immune responses to viral infections and inflammatory stimuli by inhibiting the NF-κB and interferon pathways.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Systemic complications of Aicardi Goutières syndrome using real-world data.Molecular genetics and metabolismArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
An auto-inflammatory syndrome consequent to SAMHD1 mutations involves cerebral vasculopathy characterized by multifocal stenosis and aneurysms within large arteries, moyamoya, chronic ischemia, and early-onset strokes (SAMS). While this condition involves the innate immune system, additional clinical features mimic systemic lupus erythematosus. Mutations in this gene can also cause a subset of the rare genetic condition Aicardi-Goutières syndrome. To date, no established therapy successfully prevents disease progression. We report a corticosteroid-dependent SAMS patient, a 19-year-old male of Old Order Amish ancestry, with diffuse cerebral arteriopathy identified through contrast brain magnetic resonance arteriography (MRA) and MRI. He received subcutaneous adalimumab every 2 weeks for 9 months with minimal response. Then, he started intravenous tocilizumab (6 mg/kg/dose) every 4 weeks. He sustained steadily normalizing cerebral vasculopathy and lab abnormalities resolved, allowing prednisone reduction. We conclude that the cerebral vasculopathy of the homozygous SAMHD1 mutation-mediated auto-inflammatory disease SAMS responded favorably to tocilizumab infusion therapy.
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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.