Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15.
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.
Becker, ML; Martin, TM; Doyle, TM; Rosé, CD
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