ReviewCurrent rheumatology reports2005
Blau syndrome and related genetic disorders causing childhood arthritis.
Review in Current rheumatology reports, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 66 citations in OpenAlex.
- Blau syndrome with hypertension and hepatic granulomas: a case report and literature review.Frontiers in pediatrics · 2023Article
- Potential Benefits of TNF Targeting Therapy in Blau Syndrome, a NOD2-Associated Systemic Autoinflammatory Granulomatosis.Frontiers in immunology · 2022Review
- Uveitis in Children and Adolescents.Rheumatic diseases clinics of North America · 2021Review
- A novel mutation in early-onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes.Pediatric rheumatology online journal · 2021Article
- Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature.Archives of rheumatology · 2020Article
- An Original Description of Granulomatous Liver Cirrhosis in Blau Syndrome.Digestive diseases and sciences · 2019Article
- Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases.Frontiers in immunology · 2019Review
- Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Annual review of immunology · 2015Review
- A new mutation in blau syndrome.Case reports in rheumatology · 2015Article
- [Genetic risk profile of sarcoidosis].Der Internist · 2014Article
- Untangling the web of systemic autoinflammatory diseases.Mediators of inflammation · 2014Review
- Ocular involvement in primary immunodeficiency diseases.Journal of clinical immunology · 2014Review
- IL-1 blockade in autoinflammatory syndromes.Annual review of medicine · 2014Review
- Monogenic autoinflammatory diseases: concept and clinical manifestations.Clinical immunology (Orlando, Fla.) · 2013Review
- Primary immunodeficiency diseases associated with neurologic manifestations.Journal of clinical immunology · 2012Review
- Pediatric uveitis.Journal of ophthalmic & vision research · 2011Article
- Sinus of valsalva aneurysm in Blau's syndrome.Journal of cardiothoracic surgery · 2010Article
- The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies.Current allergy and asthma reports · 2008Review
- The Nodosome: Nod1 and Nod2 control bacterial infections and inflammation.Seminars in immunopathology · 2007Review
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Blau Syndrome (BS) is an inheritable disorder characterized by granulomatous polyarthritis, panuveitis, and exanthema. It was described by Edward Blau in 1985, the same year in which Douglas Jabs reported a very similar family. Clinically indistinguishable from early onset sarcoidosis (EOS), both are now known to share a mutated form of caspase recruitment domain-15 (CARD 15), a protein involved in activation of nuclear factor kappa B which is in turn an up-regulator of pro-inflammatory cytokine transcription. An association between BS and EOS was suspected for years given the striking similarities of the core triad (arthritis-uveitis-dermatitis) and a common emerging pattern of systemic involvement. Hence, the familial form (BS) and the sporadic form (EOS) are almost certainly the same illness/defect, inherited in the first and acquired in the second as a result in most cases of a de novo mutation. Another form of granulomatous arthritis with uveitis, Crohn's disease, has also been associated with mutations in CARD 15 (albeit at a different domain) and despite similar phenotypes there are obvious differences including gut inflammation and pyoderma gangrenosum in Crohn's disease. This paper will review the clinical characteristics of these three disorders and their association with mutations in the CARD 15 gene.
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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.