Abstract
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.
Original language | English (US) |
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Pages (from-to) | 1292-1294 |
Number of pages | 3 |
Journal | Arthritis and rheumatism |
Volume | 56 |
Issue number | 4 |
DOIs | |
State | Published - Apr 2007 |
ASJC Scopus subject areas
- Immunology and Allergy
- Rheumatology
- Immunology
- Pharmacology (medical)