Impaired dendritic cell function in Crohn's disease patients with NOD2 3020insC mutation

J Leukoc Biol. 2006 Apr;79(4):860-6. doi: 10.1189/jlb.0805484. Epub 2006 Feb 3.

Abstract

The nucleotide oligomerization domain 2 (NOD2) 3020insC (NOD2fs) mutation increases susceptibility to Crohn's disease (CD), but the mechanism remains controversial. Loss-of-function and gain-of-function phenotypes have been described as a result of NOD2fs. Here, we show that dendritic cells (DC) derived from CD patients homozygous for this mutation respond normally to purified Toll-like receptor (TLR) ligands but fail to up-regulate the costimulatory molecules CD80 and CD86 in response to the NOD2 ligand muramyl dipeptide (MDP). Moreover, they lack MDP-induced enhancement of TLR-mediated tumor necrosis factor alpha, interleukin (IL)-12, and IL-10 production, which is observed in control DC with intact NOD2. These data indicate that the NOD2fs mutation results in a loss-of-function phenotype in human myeloid DC and imply decreased immune regulation by IL-10 as a possible mechanism for this mutation in CD.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetylmuramyl-Alanyl-Isoglutamine / pharmacology
  • Adult
  • Crohn Disease / genetics*
  • Crohn Disease / immunology*
  • Cytokines / biosynthesis
  • Dendritic Cells / drug effects
  • Dendritic Cells / immunology*
  • Female
  • Humans
  • Interleukin-10 / pharmacology
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Ligands
  • Male
  • Middle Aged
  • Mutation
  • Nod2 Signaling Adaptor Protein
  • Phenotype
  • Toll-Like Receptors / immunology

Substances

  • Cytokines
  • Intracellular Signaling Peptides and Proteins
  • Ligands
  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein
  • Toll-Like Receptors
  • Interleukin-10
  • Acetylmuramyl-Alanyl-Isoglutamine