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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

PW03-016 – Blau prospective cohort study: articular outcomes

Authors: CD Rose, R Cimaz, C Thomee, R Khubchandani, G Espada, R Russo, M Harjacek, B Bader-Meunier, P Brissaud, N Wulffraat, S Vastert, R Merino, A Naranjo-Hernandez, S Oliveira-Knupp, F Mackensen, J Arostegui, J Anton, J Fernandez-Martin, C Wouters

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

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. …
Metadata
Title
PW03-016 – Blau prospective cohort study: articular outcomes
Authors
CD Rose
R Cimaz
C Thomee
R Khubchandani
G Espada
R Russo
M Harjacek
B Bader-Meunier
P Brissaud
N Wulffraat
S Vastert
R Merino
A Naranjo-Hernandez
S Oliveira-Knupp
F Mackensen
J Arostegui
J Anton
J Fernandez-Martin
C Wouters
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A242

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