ArticleFrontiers in immunology2022
Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India.
Article in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 20 citations in OpenAlex.
- Interface between inborn errors of immunity and rheumatological disorders in children: A pediatrician's conundrum.World journal of clinical pediatrics · 2026Review
- Immunological analysis of Blau syndrome, a unique autoinflammatory state.Frontiers in immunology · 2026Review
- Long-term prognosis of 47 pediatric patients with Blau syndrome in China.BMC pediatrics · 2025Article
- Article
- Phenotype of Takayasu-like vasculitis and cardiopathy in patients with Blau syndrome.Clinical rheumatology · 2024Article
- Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases.Frontiers in ophthalmology · 2024Review
- Management of Blau syndrome: review and proposal of a treatment algorithm.European journal of pediatrics · 2024Review
- Ocular sarcoidosis in adults and children: update on clinical manifestation and diagnosis.Journal of ophthalmic inflammation and infection · 2023Review
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
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Abstract
Objectives: Blau syndrome (BS) is a rare autoinflammatory disease characterized by arthritis, dermatitis, and granulomatous uveitis in early childhood. The study presents the clinical experience of patients with BS at a tertiary care centre in Chandigarh, North India. Methods: Analysis of the clinical profile of patients of BS with Results: Diagnosis of BS was genetically confirmed in 11 patients (10 children and one adult; six male and five female patients) from 10 families. The median age of onset of symptoms was 12 months (range, 4 months-4 years), while the age at diagnosis ranged from 2.3 to 26 years. The classic triad of arthritis, dermatitis, and uveitis was present in 6/11 (54.5%) patients. The frequency of arthritis, dermatitis, and uveitis was 100%, 81.8%, and 72.7%, respectively. The median age at diagnosis of ocular symptoms was 4 years (range, 2-26 years). Family history was noted in six families. Renal involvement was observed in two children. All patients in our cohort had the R334W variant in Conclusions: The possibility of BS should always be considered in patients with arthritis and early ocular involvement. Uveitis is often progressive and refractory to currently available therapies. Systemic involvement appears to remain a significant cause of morbidity and mortality.
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