title: Blau syndrome, the prototypic auto-inflammatory granulomatous disease.
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.
authors.affiliation: Department of Microbiology and Immunology, Pediatric Immunology, KU Leuven - University of Leuven, B-3000 Leuven, Belgium ; Department of Pediatrics, Division Pediatric Rheumatology, University Hospitals Leuven, B-3000 Leuven, Belgium.
authors.forename: Carine H
authors.initials: CH
authors.lastname: Wouters
authors.affiliation: Department of Pediatrics, Division Pediatric Rheumatology, University Hospitals Leuven, B-3000 Leuven, Belgium.
authors.forename: Anne
authors.initials: A
authors.lastname: Maes
authors.affiliation: Pattern Recognition Receptor Discovery Performance Unit, Immuno-inflammation Therapeutic Area, GlaxoSmithKline, Collegeville, Pennsylvania, USA.
authors.forename: Kevin P
authors.initials: KP
authors.lastname: Foley
authors.affiliation: Pattern Recognition Receptor Discovery Performance Unit, Immuno-inflammation Therapeutic Area, GlaxoSmithKline, Collegeville, Pennsylvania, USA.
authors.forename: John
authors.initials: J
authors.lastname: Bertin
authors.affiliation: Division of Rheumatology Alfred I. duPont Hospital for Children, Pediatrics Thomas Jefferson University, Wilmington, Delaware, USA.
authors.forename: Carlos D
authors.initials: CD
authors.lastname: Rose
mesh_terms: D001168:Arthritis / Q000235:genetics / Q000473:pathology; D003389:Cranial Nerve Diseases / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D003872:Dermatitis / Q000235:genetics / Q000473:pathology; D006099:Granuloma / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D056660:Hereditary Autoinflammatory Diseases / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D009154:Mutation / Q000235:genetics; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics; D011446:Prospective Studies; D012507:Sarcoidosis; D015398:Signal Transduction / Q000502:physiology; D013585:Synovitis / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D014605:Uveitis / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein
keywords: Blau syndrome; Granulomatous diseases; NOD2; RIP2 kinase; Sarcoidosis; Uveitis