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Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15

✍ Scribed by Mara L. Becker; Tammy M. Martin; Trudy M. Doyle; Carlos D. Rosé

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 168 KB
Volume: 56
Category: Article
ISSN: 0004-3591
DOI: 10.1002/art.22509

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✦ Synopsis

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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