TLR3 mutations in adult patients with Herpes Simplex virus and Varicella Zoster virus encephalitis
Articolo
Data di Pubblicazione:
2017
Citazione:
TLR3 mutations in adult patients with Herpes Simplex virus and Varicella Zoster virus encephalitis / M. Sironi, A. Peri, R. Cagliani, D. Forni, S. Riva, M. Biasin, M. Clerici, A. Gori. - In: THE JOURNAL OF INFECTIOUS DISEASES. - ISSN 0022-1899. - 215:9(2017 May), pp. 1430-1434. [10.1093/infdis/jix166]
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
adult patients; herpes simplex virus encephalitis; TLR3; varicella- zoster virus encephalitis
Elenco autori:
M. Sironi, A. Peri, R. Cagliani, D. Forni, S. Riva, M. Biasin, M. Clerici, A. Gori
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