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Do you always pursue testing for NOD2 mutations when you are suspecting a diagnosis of Blau syndrome?

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Rheumatology · Legacy Devers Eye Institute

Blau Syndrome is a rare, autosomal dominant disease caused by mutations in the NOD2 gene, which codes for an intracellular sensor for muramyl dipeptide which is present in bacterial cell walls. The classic triad is arthritis, uveitis, dermatitis, but other organs can be affected. I do think that any...

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Do you always pursue testing for NOD2 mutations when you are suspecting a diagnosis of Blau syndrome? | Mednet