Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Becker, ML; Martin, TM; Doyle, TM; Rosé, CD

Published Date

  • April 2007

Published In

Volume / Issue

  • 56 / 4

Start / End Page

  • 1292 - 1294

PubMed ID

  • 17393391

International Standard Serial Number (ISSN)

  • 0004-3591

Digital Object Identifier (DOI)

  • 10.1002/art.22509

Language

  • eng

Conference Location

  • United States