PW03-016 – Blau prospective cohort study: articular outcomes
نویسندگان
چکیده
Introduction Blau syndrome is an autosomal dominant monogenic granulomatous disease associated with gain of function mutations at or near the NACHT domain of NOD2; it is the only form of granulomatous arthritis with a known gene mutation. Although its phenotype has been amply described as a triad of arthritis, uveitis and dermatitis in case series and retrospective cohorts, prospective studies on natural history and outcome have not been done.
منابع مشابه
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.
OBJECTIVE To report baseline articular, functional and ocular findings of the first international prospective cohort study of Blau syndrome (BS). METHODS Three-year, multicentre, observational study on articular, functional (HAQ, Childhood HAQ and VAS global and pain), ophthalmological, therapeutic and radiological data in BS patients. RESULTS Baseline data on the first 31 recruited patient...
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