Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15 - PubMed (original) (raw)
Case Reports
doi: 10.1002/art.22509.
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- PMID: 17393391
- DOI: 10.1002/art.22509
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Case Reports
Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15
Mara L Becker et al. Arthritis Rheum. 2007 Apr.
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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.
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