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Article

Blau syndrome, the prototypic auto-inflammatory granulomatous disease.

Pediatric rheumatology online journal - 1 Jan 2014

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25136265
DOI: 10.1186/1546-0096-12-33
PMCID: PMC4136643

Genes

NOD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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