A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?

Mod Rheumatol. 2013 Jul;23(4):837-9. doi: 10.1007/s10165-012-0720-z. Epub 2012 Jul 21.

Abstract

Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.

Publication types

  • Case Reports

MeSH terms

  • Arthritis
  • Cranial Nerve Diseases / diagnosis
  • Cranial Nerve Diseases / genetics*
  • Humans
  • Infant
  • Male
  • Mutation
  • Nod2 Signaling Adaptor Protein / genetics*
  • Sarcoidosis / diagnosis
  • Sarcoidosis / genetics*
  • Synovitis / diagnosis
  • Synovitis / genetics*
  • Takayasu Arteritis / diagnosis
  • Takayasu Arteritis / genetics*
  • Uveitis / diagnosis
  • Uveitis / genetics*

Substances

  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein

Supplementary concepts

  • Blau syndrome