Ontology highlight
ABSTRACT:
SUBMITTER: Liu Z
PROVIDER: S-EPMC10337828 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
Liu Zhiyong Z Garcia Reino Eduardo J EJ Harschnitz Oliver O Guo Hongyan H Chan Yi-Hao YH Khobrekar Noopur V NV Hasek Mary L ML Dobbs Kerry K Rinchai Darawan D Materna Marie M Matuozzo Daniela D Lee Danyel D Bastard Paul P Chen Jie J Lee Yoon Seung YS Kim Seong K SK Zhao Shuxiang S Amin Param P Lorenzo Lazaro L Seeleuthner Yoann Y Chevalier Remi R Mazzola Laure L Gay Claire C Stephan Jean-Louis JL Milisavljevic Baptiste B Boucherit Soraya S Rozenberg Flore F Perez de Diego Rebeca R Dix Richard D RD Marr Nico N Béziat Vivien V Cobat Aurelie A Aubart Mélodie M Abel Laurent L Chabrier Stephane S Smith Gregory A GA Notarangelo Luigi D LD Mocarski Edward S ES Studer Lorenz L Casanova Jean-Laurent JL Zhang Shen-Ying SY
Science immunology 20230421 82
Inborn errors of TLR3-dependent type I IFN immunity in cortical neurons underlie forebrain herpes simplex virus-1 (HSV-1) encephalitis (HSE) due to uncontrolled viral growth and subsequent cell death. We report an otherwise healthy patient with HSE who was compound heterozygous for nonsense (R422*) and frameshift (P493fs9*) <i>RIPK3</i> variants. Receptor-interacting protein kinase 3 (RIPK3) is a ubiquitous cytoplasmic kinase regulating cell death outcomes, including apoptosis and necroptosis. I ...[more]