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

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

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

Author(s) -

Manuela Sironi,

Anna Maria Peri,

Rachele Cagliani,

Diego Forni,

Stefania Riva,

Mara Biasin,

Mario Clerici,

Andrea Gori

Publication year - 2017

Publication title -

the journal of infectious diseases

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.69

H-Index - 252

eISSN - 1537-6613

pISSN - 0022-1899

DOI - 10.1093/infdis/jix166

Subject(s) - virology , encephalitis , varicella zoster virus , missense mutation , virus , herpes simplex virus , tlr3 , medicine , human herpesvirus 6 , viral encephalitis , biology , mutation , herpesviridae , immunology , viral disease , gene , toll like receptor , genetics , innate immune system , immune system

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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