ReviewNature reviews. Rheumatology2025
The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis.
Review in Nature reviews. Rheumatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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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
12 citing papers in PubMed.
- DADA2 as a Model of Monogenic Immune Vasculopathy: From Immunopathogenesis to Precision Therapeutics.Biomolecules · 2026Review
- Neuroimmune Dynamics in Diseases of the Arterial Wall: Mechanistic Foundations and Translational Prospects.Current atherosclerosis reports · 2026Review
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- Spatial transcriptomics reveals injury-responsive compartments and coordinated immune-fibrotic signaling in ANCA-associated renal vasculitis.Frontiers in immunology · 2026Article
- A protracted diagnostic journey of pediatric PAPA syndrome and subsequent response to tofacitinib therapy: a case report and literature review.Frontiers in immunology · 2026Review
- Review
- Inborn errors of immunity and AAV: a complex picture.Nature reviews. Rheumatology · 2025Article
- Reply to 'Inborn errors of immunity and AAV: a complex picture'.Nature reviews. Rheumatology · 2025Article
- Challenges in the diagnosis, classification and prognosis of ANCA-associated vasculitis.Nature reviews. Rheumatology · 2025Review
- Polyarteritis nodosa presenting with pancreatic-artery rupture and co-existing MEFV and ADA2 mutation: clinicopathological and genomic insights from a case report.Virchows Archiv : an international journal of pathology · 2025Article
- Clinical features and genetic analysis of A20 haploinsufficiency.Orphanet journal of rare diseases · 2025Article
- Case Report: NovelFrontiers in immunology · 2025Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Many monogenic autoinflammatory diseases, including DADA2 (deficiency of adenosine deaminase 2), HA20 (haploinsufficiency of A20), SAVI (STING-associated vasculopathy with onset in infancy), COPA syndrome, LAVLI (LYN kinase-associated vasculopathy and liver fibrosis) and VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, present predominantly with vasculitis and constitute a substantial subgroup of vasculitic conditions associated with a 'probable aetiology'. The spectrum of monogenic vasculitis encompasses all sizes and types of blood vessel, ranging from large vessels to medium-size and small vessels, and from the arterial side to the venous side of the vasculature. Monogenic vasculitis typically starts early in life during infancy or childhood; VEXAS syndrome, which presents in late adulthood, is an exception. The activation of myeloid cells via inflammasome and nuclear factor-κB pathways, type I interferon-enhanced autoimmune mechanisms and/or dysregulated adaptive immune responses have an important role in the development of immune-mediated endothelial dysfunction and vascular damage. Genetic testing is essential for the diagnosis of underlying monogenic autoinflammatory diseases; however, the penetrance of genetic variants can vary. Increased awareness and recognition of distinctive clinical findings could facilitate earlier diagnosis and allow for more-targeted treatments.
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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.