Detection of muramyl dipeptide-sensing pathway defects in patients with Crohn's disease

David A van Heel, Karen A Hunt, Kathy King, Subrata Ghosh, Simon M Gabe, Christopher G Mathew, Alastair Forbes, Raymond J Playford

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20 Citations (Scopus)


Crohn's disease is strongly associated with double mutations in NOD2/CARD15. Three common mutations (Arg702Trp, Gly908Arg, Leu1007fs) impair innate immune responses to bacterial muramyl dipeptide. Rare NOD2 variants occur, but it is difficult to both identify them and assess their functional effect. We assessed the true frequency of defective muramyl dipeptide sensing in Crohn's disease and developed a rapid diagnostic assay.
Original languageEnglish
Pages (from-to)598-605
Number of pages8
JournalInflammatory Bowel Diseases
Issue number7
Publication statusPublished - Jul 2006


  • Acetylmuramyl-Alanyl-Isoglutamine
  • Crohn Disease
  • Cytokines
  • Enzyme-Linked Immunosorbent Assay
  • Genotype
  • Heterozygote
  • Humans
  • Immunosuppressive Agents
  • Inflammation
  • Interleukin-1beta
  • Interleukin-8
  • Lipopolysaccharides
  • Monocytes
  • Mutation
  • Sensitivity and Specificity

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