Toll 样受体 3（TLR3）变体和 NLRP12 突变赋予了对复杂临床表现的易感性。

Toll-like receptor 3 (TLR3) variant and NLRP12 mutation confer susceptibility to a complex clinical presentation.

机构信息

Allergy and Clinical immunology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Internal Medicine Division, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.

出版信息

Clin Immunol. 2020 Mar;212:108249. doi: 10.1016/j.clim.2019.108249. Epub 2019 Aug 21.

DOI:10.1016/j.clim.2019.108249

PMID:31445170

Abstract

Genetic aberrations in the toll-like receptor (TLR)3 pathway are associated with increased susceptibility to herpes simplex virus (HSV) infections. Leucine-rich repeat and PYD-containing protein (NLRP)12 is a component of the inflammasome apparatus, which is critical to an immediate innate inflammatory response. Aberrations in NLRP12 have been shown to mediate auto-inflammation. In this study, we present a 44-year old patient with severe HSV esophagitis and Crohn's disease. An immune and genetic investigation confirmed two coinciding genetic mutations in TLR3 and NLRP12. Our findings support conducting laboratory workup that targets TLR3 pathway in the immunocompetent host developing recurrent HSV infections.

摘要

遗传异常在 Toll 样受体（TLR）3 途径与单纯疱疹病毒（HSV）感染易感性增加有关。富含亮氨酸重复和 PYD 结构域蛋白（NLRP）12 是炎症小体装置的一个组成部分，对即刻先天炎症反应至关重要。NLRP12 的异常已被证明介导自身炎症。在这项研究中，我们报告了一例 44 岁的严重 HSV 食管炎和克罗恩病患者。免疫和遗传研究证实 TLR3 和 NLRP12 同时存在两种遗传突变。我们的发现支持对免疫功能正常的宿主中复发性 HSV 感染进行以 TLR3 途径为目标的实验室检查。