Short Report
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene

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Blau syndrome (MIM 186580) is a rare autoinflammatory, familial granulomatous condition that occurs secondary to a single amino acid mutation of the NOD2/CARD15 gene on chromosome 16p12-q21. We report the case of a 2.5-year-old girl who presented for ophthalmic examination in the setting of rash and synovitis. Initially, small, evanescent, ovoid corneal subepithelial opacities unique to Blau syndrome were observed. She later developed a fulminant panuveitis that responded to immunomodulatory therapy. Subsequent genetic testing confirmed the diagnosis of Blau syndrome. Despite immunosuppression, at almost 7 years of age, she continues to have persistent panuveitis with vision of 20/20.

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Case Report

A 2.5-year-old girl of Japanese and German descent with presumed atypical juvenile idiopathic arthritis (JIA) presented to the Children's National Medical Center for ophthalmologic assessment. Previous pertinent medical history included arthritis of the wrists, ankles, and fingers diagnosed at 8 months of age, a nodular truncal rash, which appeared at 11 months, and wrist enlargement, which developed at 16 months. At 2.5 years she developed right knee swelling with bilateral cystic swellings

Discussion

Blau syndrome (MIM 186580) is a rare an autoinflammatory, familial granulomatous condition that occurs secondary to a single amino acid mutation of the NOD2/CARD15 gene on chromosome 16p12-q21, first reported in 1985.1, 2, 3 Previous cases have been reported as autosomal-dominant inheritance with variable penetrance.4 Fewer than 100 cases are known.3 Patients present first with an atypical JIA- or sarcoidosis-like disease with cystic swellings of the wrists, fingers, ankles, and elbows and red,

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Research conducted at Children's National Medical Center.

Dr. L. K. Jung performs clinical trials for Pfizer, Abbott, Roche, and Norvartis.

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