Chronic yersiniosis due to defects in the TLR5 and NOD2 recognition pathways

M G Netea; F van der Leij; J P H Drenth; L A B Joosten; R te Morsche; P Verweij; D de Jong; B-J Kullberg; J W M van der Meer

Chronic yersiniosis due to defects in the TLR5 and NOD2 recognition pathways

M G Netea^*, F van der Leij, J P H Drenth, L A B Joosten, R te Morsche, P Verweij, D de Jong, B-J Kullberg, J W M van der Meer

^*Corresponding author for this work

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

Abstract

Infection with Yersinia enterocolitica leads to a self-limiting disease, but in a small number of cases a protracted course can develop. The host genetic factors contributing to the advancement of the disease to the chronic phase are not known. We describe a patient suffering from an abdominal inflammatory mass due to chronic yersiniosis. Functional assays revealed defects in the recognition of flagellin by Toll-like receptor 5 (TLR5) and of muramyl dipeptide by NOD2, leading to a defective inflammatory response to Yersinia enterocolitica. Genetic sequencing showed that the patient was compound heterozygous for five different mutations in TLR5, while being homozygous for the 3020insC NOD2 mutation. In conclusion, we describe a patient in whom specific defects in the TLR5 and NOD2 recognition pathways led to chronic yersiniosis.

Original language	English
Pages (from-to)	310-315
Number of pages	6
Journal	The Netherlands journal of medicine
Volume	68
Issue number	10
Publication status	Published - Oct 2010
Externally published	Yes

Keywords

Adult
Chronic Disease
Genotype
Humans
Male
Mutation
Nod2 Signaling Adaptor Protein/genetics
Polymorphism, Genetic
Toll-Like Receptor 5/genetics
Yersinia Infections/diagnosis
Yersinia enterocolitica/isolation & purification

Cite this

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title = "Chronic yersiniosis due to defects in the TLR5 and NOD2 recognition pathways",

abstract = "Infection with Yersinia enterocolitica leads to a self-limiting disease, but in a small number of cases a protracted course can develop. The host genetic factors contributing to the advancement of the disease to the chronic phase are not known. We describe a patient suffering from an abdominal inflammatory mass due to chronic yersiniosis. Functional assays revealed defects in the recognition of flagellin by Toll-like receptor 5 (TLR5) and of muramyl dipeptide by NOD2, leading to a defective inflammatory response to Yersinia enterocolitica. Genetic sequencing showed that the patient was compound heterozygous for five different mutations in TLR5, while being homozygous for the 3020insC NOD2 mutation. In conclusion, we describe a patient in whom specific defects in the TLR5 and NOD2 recognition pathways led to chronic yersiniosis.",

keywords = "Adult, Chronic Disease, Genotype, Humans, Male, Mutation, Nod2 Signaling Adaptor Protein/genetics, Polymorphism, Genetic, Toll-Like Receptor 5/genetics, Yersinia Infections/diagnosis, Yersinia enterocolitica/isolation & purification",

author = "Netea, {M G} and {van der Leij}, F and Drenth, {J P H} and Joosten, {L A B} and {te Morsche}, R and P Verweij and {de Jong}, D and B-J Kullberg and {van der Meer}, {J W M}",

year = "2010",

month = oct,

language = "English",

volume = "68",

pages = "310--315",

journal = "The Netherlands journal of medicine",

issn = "0300-2977",

publisher = "Van Zuiden Communications BV",

number = "10",

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TY - JOUR

T1 - Chronic yersiniosis due to defects in the TLR5 and NOD2 recognition pathways

AU - Netea, M G

AU - van der Leij, F

AU - Drenth, J P H

AU - Joosten, L A B

AU - te Morsche, R

AU - Verweij, P

AU - de Jong, D

AU - Kullberg, B-J

AU - van der Meer, J W M

PY - 2010/10

Y1 - 2010/10

N2 - Infection with Yersinia enterocolitica leads to a self-limiting disease, but in a small number of cases a protracted course can develop. The host genetic factors contributing to the advancement of the disease to the chronic phase are not known. We describe a patient suffering from an abdominal inflammatory mass due to chronic yersiniosis. Functional assays revealed defects in the recognition of flagellin by Toll-like receptor 5 (TLR5) and of muramyl dipeptide by NOD2, leading to a defective inflammatory response to Yersinia enterocolitica. Genetic sequencing showed that the patient was compound heterozygous for five different mutations in TLR5, while being homozygous for the 3020insC NOD2 mutation. In conclusion, we describe a patient in whom specific defects in the TLR5 and NOD2 recognition pathways led to chronic yersiniosis.

AB - Infection with Yersinia enterocolitica leads to a self-limiting disease, but in a small number of cases a protracted course can develop. The host genetic factors contributing to the advancement of the disease to the chronic phase are not known. We describe a patient suffering from an abdominal inflammatory mass due to chronic yersiniosis. Functional assays revealed defects in the recognition of flagellin by Toll-like receptor 5 (TLR5) and of muramyl dipeptide by NOD2, leading to a defective inflammatory response to Yersinia enterocolitica. Genetic sequencing showed that the patient was compound heterozygous for five different mutations in TLR5, while being homozygous for the 3020insC NOD2 mutation. In conclusion, we describe a patient in whom specific defects in the TLR5 and NOD2 recognition pathways led to chronic yersiniosis.

KW - Adult

KW - Chronic Disease

KW - Genotype

KW - Humans

KW - Male

KW - Mutation

KW - Nod2 Signaling Adaptor Protein/genetics

KW - Polymorphism, Genetic

KW - Toll-Like Receptor 5/genetics

KW - Yersinia Infections/diagnosis

KW - Yersinia enterocolitica/isolation & purification

M3 - Article

C2 - 21071776

SN - 0300-2977

VL - 68

SP - 310

EP - 315

JO - The Netherlands journal of medicine

JF - The Netherlands journal of medicine

IS - 10

ER -

Chronic yersiniosis due to defects in the TLR5 and NOD2 recognition pathways

Abstract

Keywords

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