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

doi:10.1097/01.ibd.0000225344.21979.89

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

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	598-605
Number of pages	8
Journal	Inflammatory Bowel Diseases
Volume	12
Issue number	7
DOIs	https://doi.org/10.1097/01.ibd.0000225344.21979.89
Publication status	Published - Jul 2006

Keywords

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

Access to Document

10.1097/01.ibd.0000225344.21979.89

Cite this

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title = "Detection of muramyl dipeptide-sensing pathway defects in patients with Crohn's disease",

abstract = "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.",

keywords = "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",

author = "{van Heel}, {David A} and Hunt, {Karen A} and Kathy King and Subrata Ghosh and Gabe, {Simon M} and Mathew, {Christopher G} and Alastair Forbes and Playford, {Raymond J}",

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T1 - Detection of muramyl dipeptide-sensing pathway defects in patients with Crohn's disease

AU - van Heel, David A

AU - Hunt, Karen A

AU - King, Kathy

AU - Ghosh, Subrata

AU - Gabe, Simon M

AU - Mathew, Christopher G

AU - Forbes, Alastair

AU - Playford, Raymond J

PY - 2006/7

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AB - 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.

KW - Acetylmuramyl-Alanyl-Isoglutamine

KW - Crohn Disease

KW - Cytokines

KW - Enzyme-Linked Immunosorbent Assay

KW - Genotype

KW - Heterozygote

KW - Humans

KW - Immunosuppressive Agents

KW - Inflammation

KW - Interleukin-1beta

KW - Interleukin-8

KW - Lipopolysaccharides

KW - Monocytes

KW - Mutation

KW - Sensitivity and Specificity

U2 - 10.1097/01.ibd.0000225344.21979.89

DO - 10.1097/01.ibd.0000225344.21979.89

M3 - Article

C2 - 16804397

SN - 1078-0998

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EP - 605

JO - Inflammatory Bowel Diseases

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