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.
authors.affiliation: Bioinformatic Unit, Scientific Institute IRCCS E. Medea, Bosisio Parini.
authors.forename: Manuela
authors.initials: M
authors.lastname: Sironi
authors.affiliation: Division of Infectious Diseases, San Gerardo Hospital, University of Milano-Bicocca, Monza.
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Peri
authors.affiliation: Bioinformatic Unit, Scientific Institute IRCCS E. Medea, Bosisio Parini.
authors.forename: Rachele
authors.initials: R
authors.lastname: Cagliani
authors.affiliation: Bioinformatic Unit, Scientific Institute IRCCS E. Medea, Bosisio Parini.
authors.forename: Diego
authors.initials: D
authors.lastname: Forni
authors.affiliation: Bioinformatic Unit, Scientific Institute IRCCS E. Medea, Bosisio Parini.
authors.forename: Stefania
authors.initials: S
authors.lastname: Riva
authors.affiliation: Departments of Biomedical and Clinical Sciences and.
authors.forename: Mara
authors.initials: M
authors.lastname: Biasin
authors.affiliation: Physiopathology and Transplants, University of Milano, and.|Don C. Gnocchi Foundation ONLUS, IRCCS, Milan, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Clerici
authors.affiliation: Division of Infectious Diseases, San Gerardo Hospital, University of Milano-Bicocca, Monza.
authors.forename: Andrea
authors.initials: A
authors.lastname: Gori
mesh_terms: D000328:Adult; D000368:Aged; D015331:Cohort Studies; D020804:Encephalitis, Varicella Zoster / Q000235:genetics*; D005260:Female; D006561:Herpes Simplex / Q000235:genetics*; D014645:Herpesvirus 3, Human; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D018139:Simplexvirus; D051196:Toll-Like Receptor 3 / Q000737:chemistry / Q000235:genetics*
chemical_list: C495344:TLR3 protein, human; D051196:Toll-Like Receptor 3
keywords: TLR3; adult patients.; herpes simplex virus encephalitis; varicella-zoster virus encephalitis