TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis

Manuela Sironi; Anna Maria Peri; Rachele Cagliani; Diego Forni; Stefania Riva; Mara Biasin; Mario Clerici; Andrea Gori

doi:10.1093/infdis/jix166

TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis

Manuela Sironi, Anna Maria Peri, Rachele Cagliani, Diego Forni, Stefania Riva, Mara Biasin, Mario Clerici, Andrea Gori

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

Abstract

Defects in genes of the Toll-like receptor 3 (TLR3) pathway are associated with susceptibility to herpes simplex virus type 1 encephalitis (HSE). We analyzed a cohort of 11 adult Italian patients in whom viral encephalitis developed. We detected 2 rare missense mutations in TLR3: 1 in a patient with HSE (p.Leu297Val) and 1 in a patient with varicella-zoster virus encephalitis (p.Leu199Phe). Both mutations are extremely rare in human populations and have pathogenicity scores highly suggestive of a functional effect. Data herein expand the phenotypic spectrum of TLR3 mutations to varicella-zoster virus encephalitis and support the role of TLR3 genetic defects as risk factors for HSE in adults.

Original language	English
Pages (from-to)	1430-1434
Number of pages	5
Journal	The Journal of infectious diseases
Volume	215
Issue number	9
DOIs	https://doi.org/10.1093/infdis/jix166
Publication status	Published - May 1 2017

Keywords

Adult
Aged
Cohort Studies
Encephalitis, Varicella Zoster/genetics
Female
Herpes Simplex/genetics
Herpesvirus 3, Human
Humans
Male
Middle Aged
Mutation/genetics
Simplexvirus
Toll-Like Receptor 3/chemistry

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10.1093/infdis/jix166

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title = "TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis",

abstract = "Defects in genes of the Toll-like receptor 3 (TLR3) pathway are associated with susceptibility to herpes simplex virus type 1 encephalitis (HSE). We analyzed a cohort of 11 adult Italian patients in whom viral encephalitis developed. We detected 2 rare missense mutations in TLR3: 1 in a patient with HSE (p.Leu297Val) and 1 in a patient with varicella-zoster virus encephalitis (p.Leu199Phe). Both mutations are extremely rare in human populations and have pathogenicity scores highly suggestive of a functional effect. Data herein expand the phenotypic spectrum of TLR3 mutations to varicella-zoster virus encephalitis and support the role of TLR3 genetic defects as risk factors for HSE in adults.",

keywords = "Adult, Aged, Cohort Studies, Encephalitis, Varicella Zoster/genetics, Female, Herpes Simplex/genetics, Herpesvirus 3, Human, Humans, Male, Middle Aged, Mutation/genetics, Simplexvirus, Toll-Like Receptor 3/chemistry",

author = "Manuela Sironi and Peri, {Anna Maria} and Rachele Cagliani and Diego Forni and Stefania Riva and Mara Biasin and Mario Clerici and Andrea Gori",

note = "{\textcopyright} The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com.",

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T1 - TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis

AU - Sironi, Manuela

AU - Peri, Anna Maria

AU - Cagliani, Rachele

AU - Forni, Diego

AU - Riva, Stefania

AU - Biasin, Mara

AU - Clerici, Mario

AU - Gori, Andrea

PY - 2017/5/1

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N2 - Defects in genes of the Toll-like receptor 3 (TLR3) pathway are associated with susceptibility to herpes simplex virus type 1 encephalitis (HSE). We analyzed a cohort of 11 adult Italian patients in whom viral encephalitis developed. We detected 2 rare missense mutations in TLR3: 1 in a patient with HSE (p.Leu297Val) and 1 in a patient with varicella-zoster virus encephalitis (p.Leu199Phe). Both mutations are extremely rare in human populations and have pathogenicity scores highly suggestive of a functional effect. Data herein expand the phenotypic spectrum of TLR3 mutations to varicella-zoster virus encephalitis and support the role of TLR3 genetic defects as risk factors for HSE in adults.

AB - Defects in genes of the Toll-like receptor 3 (TLR3) pathway are associated with susceptibility to herpes simplex virus type 1 encephalitis (HSE). We analyzed a cohort of 11 adult Italian patients in whom viral encephalitis developed. We detected 2 rare missense mutations in TLR3: 1 in a patient with HSE (p.Leu297Val) and 1 in a patient with varicella-zoster virus encephalitis (p.Leu199Phe). Both mutations are extremely rare in human populations and have pathogenicity scores highly suggestive of a functional effect. Data herein expand the phenotypic spectrum of TLR3 mutations to varicella-zoster virus encephalitis and support the role of TLR3 genetic defects as risk factors for HSE in adults.

KW - Adult

KW - Aged

KW - Cohort Studies

KW - Encephalitis, Varicella Zoster/genetics

KW - Female

KW - Herpes Simplex/genetics

KW - Herpesvirus 3, Human

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation/genetics

KW - Simplexvirus

KW - Toll-Like Receptor 3/chemistry

U2 - 10.1093/infdis/jix166

DO - 10.1093/infdis/jix166

M3 - Article

C2 - 28368532

SN - 0022-1899

VL - 215

SP - 1430

EP - 1434

JO - Journal of Infectious Diseases

JF - Journal of Infectious Diseases

IS - 9

ER -

TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis

Abstract

Keywords

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