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    Arthritis Rheum. 2007 Apr;56(4):1292-4.

    Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15.

    Becker ML, Martin TM, Doyle TM, Rosé CD.

    Section of Rheumatology, Children's Mercy Hospitals and Clinics, Kansas City, Missouri 64108, and Oregon Health and Science University, Portland, USA. mlbecker@cmh.edu

    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.

    PMID: 17393391 [PubMed - indexed for MEDLINE]

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