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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2014

Open Access 01-12-2014 | Review

Blau Syndrome, the prototypic auto-inflammatory granulomatous disease

Authors: Carine H Wouters, Anne Maes, Kevin P Foley, John Bertin, Carlos D Rose

Published in: Pediatric Rheumatology | Issue 1/2014

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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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Metadata
Title
Blau Syndrome, the prototypic auto-inflammatory granulomatous disease
Authors
Carine H Wouters
Anne Maes
Kevin P Foley
John Bertin
Carlos D Rose
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue 1/2014
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-12-33

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