Blau syndrome revisited

Carlos D. Rosé, Tammy Martin, Carine H. Wouters

Research output: Contribution to journalArticle

57 Citations (Scopus)

Abstract

Purpose of Review: Blau syndrome is a monogenic disease resulting from mutations in nucleotide oligomerization domain 2 (NOD2) and is phenotypically characterized by granulomatous polyarthritis and uveitis. Not only there has been significant progress in disease characterization but also the biological pathways associated with NOD2 and related proteins of the innate immunity are better understood. Recent Findings: The phenotype of Blau syndrome has proven to be more complex than initially thought. A discussion on those manifestations will be provided in the clinical sections of this review. As more patients and pedigrees are found new mutations in the NOD2 gene have emerged and we discuss them in some detail. Due to its importance in Crohn's disease NOD2 has become the focus of intense research. A brief review of more recent advances in relevant pathways is presented and published reviews referenced for the interested reader. The granulomatous character of Blau syndrome provides an opportunity to look at possible pathogenic effects of NOD2 'gain of function'. New immunohistochemical data are briefly reviewed as well. Summary: Elucidation of downstream effects of NOD2 mutations could provide valuable clues to mechanisms of arthritis and uveitis in general as well as granulomatous diseases in particular.

Original languageEnglish (US)
Pages (from-to)411-418
Number of pages8
JournalCurrent Opinion in Rheumatology
Volume23
Issue number5
DOIs
StatePublished - Sep 2011

Fingerprint

Nucleotides
Uveitis
Nod2 Signaling Adaptor Protein
Mutation
Arthritis
Pedigree
Innate Immunity
Crohn Disease
Blau syndrome
Phenotype
Research
Genes

Keywords

  • Blau syndrome
  • genetic mutation
  • NOD2
  • sarcoidosis
  • uveitis

ASJC Scopus subject areas

  • Rheumatology

Cite this

Blau syndrome revisited. / Rosé, Carlos D.; Martin, Tammy; Wouters, Carine H.

In: Current Opinion in Rheumatology, Vol. 23, No. 5, 09.2011, p. 411-418.

Research output: Contribution to journalArticle

Rosé, Carlos D. ; Martin, Tammy ; Wouters, Carine H. / Blau syndrome revisited. In: Current Opinion in Rheumatology. 2011 ; Vol. 23, No. 5. pp. 411-418.
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