Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15

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

Research output: Contribution to journalArticle

37 Citations (Scopus)

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 2007

Fingerprint

Interstitial Lung Diseases
Mutation
Synovitis
Uveitis
Dermatitis
Sarcoidosis
Phenotype
Blau syndrome

ASJC Scopus subject areas

  • Immunology
  • Rheumatology

Cite this

Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. / Becker, Mara L.; Martin, Tammy; Doyle, Trudy M.; Rosé, Carlos D.

In: Arthritis and Rheumatism, Vol. 56, No. 4, 04.2007, p. 1292-1294.

Research output: Contribution to journalArticle

Becker, Mara L. ; Martin, Tammy ; Doyle, Trudy M. ; Rosé, Carlos D. / Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. In: Arthritis and Rheumatism. 2007 ; Vol. 56, No. 4. pp. 1292-1294.
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