Open AccessInterstitial pneumonitis in Blau syndrome with documented mutation in CARD15
Author(s) -
Becker Mara L.,
Martin Tammy M.,
Doyle Trudy M.,
Rosé Carlos D.
Publication year - 2007
Publication title -
arthritis & rheumatism
Language(s) - English
Resource type - Journals
eISSN - 1529-0131
pISSN - 0004-3591
DOI - 10.1002/art.22509
Subject(s) - sarcoidosis , interstitial lung disease , medicine , dermatology , interstitial pneumonitis , disease , uveitis , synovitis , mutation , pathology , lung , immunology , lung disease , genetics , arthritis , biology , gene
This is the first report of a CARD15 mutation–positive patient with Blau syndrome who exhibited interstitial lung disease, a feature historically considered absent from Blau syndrome, while typical of the adult form of sarcoidosis. This case illustrates the continued evolution of the phenotype of a disease initially conceived as a familial inflammatory granulomatous disease limited to the triad of synovitis, dermatitis, and uveitis.