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Familial Granulomatous Uveitis with Arthritis Suggestive of Blau Syndrome: A Multigenerational Case Series from India.

Ocular immunology and inflammation - 1 May 2026

Jain Parul, Agrrawal Vanditaa, Singla Sumeet, Khurana Nita, Rauthan Sunidhi

Abstract excerpt

PURPOSE: Blau syndrome is a rare autosomal dominant autoinflammatory disorder characterized by granulomatous dermatitis, arthritis, and uveitis resulting from gain-of-function mutations in the NOD2 gene. In India, the condition is frequently underrecognized or misdiagnosed due to significant clinical overlap with juvenile idiopathic arthritis associated uveitis and early onset sarcoidosis. Reports of familial...

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Identifiers

PMID: 41902739
DOI: 10.1080/09273948.2026.2651789

Genes

NOD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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