由于Toll样受体5（TLR5）和核苷酸结合寡聚化结构域蛋白2（NOD2）识别途径缺陷导致的慢性耶尔森菌病

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

作者信息

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

机构信息

Nijmegen University Centre for Infectious Diseases, Nijmegen, the Netherlands.

出版信息

Neth J Med. 2010 Oct;68(10):310-5.

PMID:21071776

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.

摘要

小肠结肠炎耶尔森菌感染通常会引发自限性疾病，但在少数情况下可能会发展为病程迁延的疾病。目前尚不清楚导致疾病进展至慢性期的宿主遗传因素。我们描述了一名因慢性耶尔森菌病而患有腹部炎性肿块的患者。功能分析显示，Toll样受体5（TLR5）识别鞭毛蛋白以及NOD2识别胞壁酰二肽存在缺陷，导致对小肠结肠炎耶尔森菌的炎症反应存在缺陷。基因测序表明，该患者TLR5存在五个不同突变的复合杂合子，而NOD2的3020insC突变则为纯合子。总之，我们描述了一名患者，其TLR5和NOD2识别途径的特定缺陷导致了慢性耶尔森菌病。