Abstract
Abstract
Blau syndrome ( BS ) , considered a rare pediatric autoinflammatory disease, is characterized by a triad of granulomatous arthritis, dermatitis and uveitis . Here we present a tale of three families evaluated in our outpatient department over the last two years (2020-2022). More than one member of the family was affected with either skin, ophthalmological and joint involvement with either biopsy-proven granuloma or a genetic mutation at NOD2 gene suggesting the diagnosis of BS. The third family had a novel pathogenic mutation in the NOD2 gene with clinical features of BS
Publisher
Research Square Platform LLC
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