ReviewRheumatology international2021
A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review.
Review in Rheumatology international, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
15 citing papers in PubMed, 31 citations in OpenAlex.
- Case report and review of the literature: a unique presentation of Blau syndrome in a Palestinian family.Frontiers in pediatrics · 2025Article
- Management of Blau syndrome: review and proposal of a treatment algorithm.European journal of pediatrics · 2024Review
- Kidney Involvement in Autoinflammatory Diseases.Kidney diseases (Basel, Switzerland) · 2023Review
- A Chinese girl of Blau syndrome with renal arteritis and a literature review.Pediatric rheumatology online journal · 2023Review
- Blau syndrome with hypertension and hepatic granulomas: a case report and literature review.Frontiers in pediatrics · 2023Article
- Biologic Therapies for the Management of Cutaneous Findings in Genodermatoses: A Review.American journal of clinical dermatology · 2022Review
- Prominent tenosynovitis on ultrasonography: A useful sign for the diagnosis of Blau syndrome.European journal of rheumatology · 2022Article
- Clinical and immunological study of Tofacitinib and Baricitinib in refractory Blau syndrome: case report and literature review.Therapeutic advances in musculoskeletal disease · 2022Article
- Potential Benefits of TNF Targeting Therapy in Blau Syndrome, a NOD2-Associated Systemic Autoinflammatory Granulomatosis.Frontiers in immunology · 2022Review
- Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India.Frontiers in immunology · 2022Article
- Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome.Life (Basel, Switzerland) · 2021Article
- Blau syndrome: a case report from Palestine.Pediatric rheumatology online journal · 2021Article
- Distinguishing Blau Syndrome from Systemic Sarcoidosis.Current allergy and asthma reports · 2021Review
- Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.Frontiers in immunology · 2021Article
- Blau syndrome: An under-reported condition in India?Journal of postgraduate medicineArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Blau syndrome is a rare autosomal dominant monogenic auto-inflammatory disorder characterized by triad of granulomatous polyarthritis, dermatitis, and uveitis. However, it may be difficult to recognize this syndrome in the absence of all three characteristic clinical manifestations. A 3-year-old girl presented with early onset symmetric polyarthritis and developed granulomatous uveitis at 13 years of age. However, Blau syndrome was suspected at 21 years of age when she was diagnosed to have disseminated granulomas in liver and kidneys. Diagnosis of Blau syndrome was confirmed by finding a mutation in NOD2 gene (p.Arg334Gln; FP2678). She was initiated on adalimumab therapy and she showed good response to this treatment. We did a literature search to find out all reported cases of Blau syndrome with disseminated granulomatous inflammation and all cases of Blau syndrome that were treated with adalimumab therapy. Seventeen patients with Blau syndrome have been reported to have granulomas at unusual locations (liver; kidneys; lungs; salivary glands; intestine; and lymph nodes). Adalimumab has been reported to be used in 33 patients with Blau syndrome. The indication to initiate adalimumab in large majority of these patients was persistence of uveitis. A possibility of Blau syndrome should be considered in all children presenting with early onset arthritis (especially with the presence of boggy swelling) and granulomatous uveitis. Granulomas in the liver and kidney are uncommon disease manifestations. Adalimumab may be an effective treatment for patients with Blau syndrome who are resistant to other forms of therapy.
Indexed as
Identifiers
What OpenQuestion holds
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.