Document Type

Article

Publication Date

8-6-2014

Comments

This article has been peer reviewed. It was published in: Pediatric Rhematology.

Volume 12, Issue 1, August 06, 2014, Article number 33.

The published version is available at DOI: 10.1186/1546-0096-12-33

Copyright © 2014 Wouters et al.; licensee BioMed Central Ltd.

Abstract

Blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor NOD2, and is phenotypically characterized by the triad of granulomatous polyarthritis, dermatitis and uveitis. This paper reviews briefly the classical clinical features of the disease, as well as more recently described extra-triad symptoms. From an ongoing prospective multicenter study, we provide new data on the natural history of Blau syndrome, focusing on functional status and visual outcome. We also present an update of the range of different NOD2 mutations found in Blau syndrome as well as recent data on morphologic and immunohistochemical characteristics of the Blau granuloma. Finally, emerging insights into pathogenic mechanisms including activation of NOD2 signal transduction, and potential biomarkers of disease activity are discussed.

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