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	Journal of Infectious Diseases
Volume	215
Issue number	9
DOIs	https://doi.org/10.1093/infdis/jix166
Publication status	Published - 2017

Keywords

adult patients
herpes simplex virus encephalitis
TLR3
varicella- zoster virus encephalitis

ASJC Scopus subject areas

Immunology and Allergy
Infectious Diseases

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10.1093/infdis/jix166

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TLR3 mutations in adult patients with herpes simplex virus and varicella-zoster virus encephalitis. / Sironi, Manuela; Peri, Anna Maria; Cagliani, Rachele ; Forni, Diego; Riva, Stefania; Biasin, Mara; Clerici, Mario; Gori, Andrea.

In: Journal of Infectious Diseases, Vol. 215, No. 9, 2017, p. 1430-1434.

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

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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.",

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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

Y1 - 2017

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 patients

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TLR3 mutations in adult patients with herpes simplex virus and varicella-zoster virus encephalitis

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