Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15

Mara L. Becker, Tammy M. Martin, Trudy M. Doyle, Carlos D. Rosé

Research output: Contribution to journalArticle

41 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1292-1294
Number of pages3
JournalArthritis and rheumatism
Volume56
Issue number4
DOIs
StatePublished - Apr 1 2007

ASJC Scopus subject areas

  • Immunology and Allergy
  • Rheumatology
  • Immunology
  • Pharmacology (medical)

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