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

Yuval Tal; Yaarit Ribak; Aya Khalaila; Oded Shamriz; Nofar Marcus; Adar Zinger; Vardiella Meiner; Ronen Schuster; Eli C. Lewis; Amit Nahum

doi:10.1016/j.clim.2019.108249

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

Yuval Tal, Yaarit Ribak, Aya Khalaila, Oded Shamriz, Nofar Marcus, Adar Zinger, Vardiella Meiner, Ronen Schuster, Eli C. Lewis, Amit Nahum

Department of Clinical Biochemistry and Pharmacology

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

10 Scopus citations

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.

Original language	English
Article number	108249
Journal	Clinical Immunology
Volume	212
DOIs	https://doi.org/10.1016/j.clim.2019.108249
State	Published - 1 Mar 2020

Keywords

Autoinflammation
Crohn's disease
Herpes simplex esophagitis
Herpes simplex virus (HSV)
Leucine-rich repeat and PYD-containing protein (NLRP12)
NACHT domain
NLRP12
TLR3
Toll-like receptor

ASJC Scopus subject areas

Immunology and Allergy
Immunology

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10.1016/j.clim.2019.108249

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title = "Toll-like receptor 3 (TLR3) variant and NLRP12 mutation confer susceptibility to a complex clinical presentation",

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.",

keywords = "Autoinflammation, Crohn's disease, Herpes simplex esophagitis, Herpes simplex virus (HSV), Leucine-rich repeat and PYD-containing protein (NLRP12), NACHT domain, NLRP12, TLR3, Toll-like receptor",

author = "Yuval Tal and Yaarit Ribak and Aya Khalaila and Oded Shamriz and Nofar Marcus and Adar Zinger and Vardiella Meiner and Ronen Schuster and Lewis, {Eli C.} and Amit Nahum",

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year = "2020",

month = mar,

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doi = "10.1016/j.clim.2019.108249",

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T1 - Toll-like receptor 3 (TLR3) variant and NLRP12 mutation confer susceptibility to a complex clinical presentation

AU - Tal, Yuval

AU - Ribak, Yaarit

AU - Khalaila, Aya

AU - Shamriz, Oded

AU - Marcus, Nofar

AU - Zinger, Adar

AU - Meiner, Vardiella

AU - Schuster, Ronen

AU - Lewis, Eli C.

AU - Nahum, Amit

PY - 2020/3/1

Y1 - 2020/3/1

N2 - 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.

AB - 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.

KW - Autoinflammation

KW - Crohn's disease

KW - Herpes simplex esophagitis

KW - Herpes simplex virus (HSV)

KW - Leucine-rich repeat and PYD-containing protein (NLRP12)

KW - NACHT domain

KW - NLRP12

KW - TLR3

KW - Toll-like receptor

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U2 - 10.1016/j.clim.2019.108249

DO - 10.1016/j.clim.2019.108249

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AN - SCOPUS:85071402415

SN - 1521-6616

VL - 212

JO - Clinical Immunology

JF - Clinical Immunology

M1 - 108249

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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