Blau syndrome at a tertiary care center of Eastern India: Two case reports and review of literature

Table 1 Major case reports of Blau syndrome in the Indian population

Ref.	Region	Number of cases	Unique features	Disease progression pattern	Mainstay immunosuppressive treatment	Remark
Jain et al[4], 2018	East	1	Vitreous hemorrhage without vascular abnormalities, hepato-splenomegaly	Therapeutic vitrectomy led to remission of ocular disease despite waxing and waning systemic disease	Oral steroids and methotrexate	Novel mutation in helical domain 2 of NOD2 in sporadic BS discovered
Naik et al[5], 2018	South	1	Child born out of second-degree consanguineous marriage but no genetic mutations typical of BS found	Recurrent uveitis and arthritis, but maintaining normal visual acuity since remission	Adalimumab monotherapy (after failure of topical steroids, systemic steroids, methotrexate, and infliximab)	First case of sporadic BS in India with long follow-up on adalimumab monotherapy
Janarthanan et al[6], 2019	South	3	First molecularly confirmed report of familial BS from India	Recurrent episodes with residual joint deformities	Systemic steroids, methotrexate, topical non-steroidal anti-inflammatory drugs
Babu et al[7], 2021	South	7	Keratoconjunctivitis sicca, conjunctival granulomas, subepithelial corneal opacities, subretinal granuloma	Recurrent episodes with but with good visual prognosis	Oral steroids, methotrexate, mycophenolate mofetil	Largest case series at that time
Babu et al[8], 2025	South	10		Almost 4/5ths of the patients had no inflammation at last follow-up	Oral steroids, methotrexate, mycophenolate mofetil, adalimumab, tofacitinib, infliximab and combinations of biologic agents including canakinumab
Baisya et al[9], 2023	South	5	Fever, lymphadenopathy, serositis, organomegaly, subcutaneous nodule	Patients responded well (details not mentioned)	Oral steroids, methotrexate	Familial BS in 3 families
Jindal et al[10], 2021	North	1	Disseminated granulomas in liver and kidneys. Unique sequence and timing of organ system involvement: Symmetric polyarthritis at 3 years of age, granulomatous uveitis at 13 years of age, disseminated granulomas in liver and kidneys at 21 years of age	Persistent splenomegaly and thrombocytopenia, leucopenia, and anemia despite treatment and follow-up of 20 years	Adalimumab
Banday et al[11], 2022	North	2	No uveitis at presentation of child	Remained well at follow-up	Methotrexate	Grandmother, mother and child affected
Kumrah et al[12], 2022	North	11	Chronic kidney disease, nephrotic range proteinuria	Progressive and refractory to treatment, leading to residual joint deformities	Methotrexate, adalimumab, azathioprine, mycophenolate mofetil, leflunomide
Nagpal and Singh[13], 2024	North	1		Good vision in operated and unoperated eye	oral corticosteroids and methotrexate	Biopsy refused. Genetic screening of family members not done due to constraints.
Sharma et al[14], 2025	North	3	Bilateral small vessel Retinal vasculitis in all cases	One of the cases had very late onset of uveitis at 28 years of age, without history of arthritis or dermatitis	Not reported	Retinal vasculitis reported as a rare phenotype of BS
Present report	East	2	One case had typical manifestations. The other had history of tubulointerstitial nephritis, seizure disorder, restrictive lung disease, and multi-drug-resistant tuberculosis, and developed uveitic sequelae post-cataract surgery, oral ulcers, retinal vasculitis and exudative shallow retinal detachment	Waxing and waning course of systemic and intraocular inflammation, however, with fair visual outcome but loss to follow up	Adalimumab with steroid therapy as initial bridge; intra-articular Triamcinolone acetate after withdrawal of methotrexate due to adverse effects	Detailed ocular examination and treatment course mentioned in detail. Ultrasonography of joints, biopsy and genetic testing refused due to constraints

The classic triad of dermatitis, arthritis, and uveitis was observed in all patients unless otherwise stated. BS: Blau syndrome.