Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis

Carlos D. Rosé, Trudy M. Doyle, Gail McIlvain-Simpson, Jessica E. Coffman, James T. Rosenbaum, Michael P. Davey, Tammy M. Martin

Research output: Contribution to journalArticlepeer-review

128 Scopus citations


Patients with sporadic early-onset granulomatous arthritis are clinically identical to Blau syndrome, but without the family history. Blau syndrome is an autosomal dominant inherited disease and is known to be caused by mutations in the CARD15 gene (also called NOD2). We investigated the hypothesis that an individual with sporadic early onset granulomatous arthritis may have a Blau syndrome mutation in CARD15/NOD2. Our patient's genomic DNA isolated from a buccal swab sample was subjected to amplification to include the region of exon 4 from the CARD15/NOD2 gene that contains known mutations that cause Blau syndrome. This region was screened for mutations by direct DNA sequencing in both directions. One of the mutations in CARD15/NOD2 attributed to Blau syndrome was found in the DNA sample. The nucleotide change encodes an amino acid substitution from arginine to tryptophan at position 334 of the protein. This mutation has been found in some Blau syndrome pedigrees reported in the literature. These data suggest that sporadic granulomatous arthritis may in fact be the sporadic form of Blau syndrome, but arising from a spontaneous neomutation. This would explain the profound clinical identity and the lack of disease history in the parents.

Original languageEnglish (US)
Pages (from-to)373-375
Number of pages3
JournalJournal of Rheumatology
Issue number2
StatePublished - Feb 2005


  • Arthritis
  • Blau syndrome
  • CARD 15
  • Sarcoidosis
  • Uveitis

ASJC Scopus subject areas

  • Rheumatology
  • Immunology and Allergy
  • Immunology


Dive into the research topics of 'Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis'. Together they form a unique fingerprint.

Cite this