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Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency.
Liu, Zhiyong; Garcia Reino, Eduardo J; Harschnitz, Oliver; Guo, Hongyan; Chan, Yi-Hao; Khobrekar, Noopur V; Hasek, Mary L; Dobbs, Kerry; Rinchai, Darawan; Materna, Marie; Matuozzo, Daniela; Lee, Danyel; Bastard, Paul; Chen, Jie; Lee, Yoon Seung; Kim, Seong K; Zhao, Shuxiang; Amin, Param; Lorenzo, Lazaro; Seeleuthner, Yoann; Chevalier, Remi; Mazzola, Laure; Gay, Claire; Stephan, Jean-Louis; Milisavljevic, Baptiste; Boucherit, Soraya; Rozenberg, Flore; Perez de Diego, Rebeca; Dix, Richard D; Marr, Nico; Béziat, Vivien; Cobat, Aurelie; Aubart, Mélodie; Abel, Laurent; Chabrier, Stephane; Smith, Gregory A; Notarangelo, Luigi D; Mocarski, Edward S; Studer, Lorenz; Casanova, Jean-Laurent; Zhang, Shen-Ying.
Afiliación
  • Liu Z; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Garcia Reino EJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Harschnitz O; The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, NY, USA.
  • Guo H; Human Technopole, Viale Rita Levi-Montalcini, Milan, Italy.
  • Chan YH; Department of Microbiology and Immunology, Emory Vaccine Center, Emory University, GA, USA.
  • Khobrekar NV; School of Medicine, Atlanta, GA, USA.
  • Hasek ML; Louisiana State University Health Sciences Center at Shreveport (LSUHSC-S), Shreveport, LA, USA.
  • Dobbs K; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Rinchai D; The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, NY, USA.
  • Materna M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Matuozzo D; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.
  • Lee D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Chen J; Paris City University, Imagine Institute, Paris, France.
  • Lee YS; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Kim SK; Paris City University, Imagine Institute, Paris, France.
  • Zhao S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Amin P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Lorenzo L; Paris City University, Imagine Institute, Paris, France.
  • Seeleuthner Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Chevalier R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Mazzola L; Paris City University, Imagine Institute, Paris, France.
  • Gay C; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
  • Stephan JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Milisavljevic B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Boucherit S; School of Medicine, Atlanta, GA, USA.
  • Rozenberg F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Perez de Diego R; The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, NY, USA.
  • Dix RD; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Marr N; Paris City University, Imagine Institute, Paris, France.
  • Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Cobat A; Paris City University, Imagine Institute, Paris, France.
  • Aubart M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Abel L; Paris City University, Imagine Institute, Paris, France.
  • Chabrier S; Department of Pediatrics, Hôpital Nord, Saint-Etienne, Paris, France.
  • Smith GA; Department of Pediatrics, Hôpital Nord, Saint-Etienne, Paris, France.
  • Notarangelo LD; Department of Pediatrics, Hôpital Nord, Saint-Etienne, Paris, France.
  • Mocarski ES; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  • Studer L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
  • Casanova JL; Paris City University, Imagine Institute, Paris, France.
  • Zhang SY; Laboratory of Virology, Assistance Publique-Hôpitaux de Paris (AP-HP), Cochin Hospital, Paris, France.
Sci Immunol ; 8(82): eade2860, 2023 04 21.
Article en En | MEDLINE | ID: mdl-37083451
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*) RIPK3 variants. Receptor-interacting protein kinase 3 (RIPK3) is a ubiquitous cytoplasmic kinase regulating cell death outcomes, including apoptosis and necroptosis. In vitro, the R422* and P493fs9* RIPK3 proteins impaired cellular apoptosis and necroptosis upon TLR3, TLR4, or TNFR1 stimulation and ZBP1/DAI-mediated necroptotic cell death after HSV-1 infection. The patient's fibroblasts displayed no detectable RIPK3 expression. After TNFR1 or TLR3 stimulation, the patient's cells did not undergo apoptosis or necroptosis. After HSV-1 infection, the cells supported excessive viral growth despite normal induction of antiviral IFN-ß and IFN-stimulated genes (ISGs). This phenotype was, nevertheless, rescued by application of exogenous type I IFN. The patient's human pluripotent stem cell (hPSC)-derived cortical neurons displayed impaired cell death and enhanced viral growth after HSV-1 infection, as did isogenic RIPK3-knockout hPSC-derived cortical neurons. Inherited RIPK3 deficiency therefore confers a predisposition to HSE by impairing the cell death-dependent control of HSV-1 in cortical neurons but not their production of or response to type I IFNs.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Herpesvirus Humano 1 / Encefalitis por Herpes Simple / Herpes Simple Límite: Humans Idioma: En Revista: Sci Immunol Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Herpesvirus Humano 1 / Encefalitis por Herpes Simple / Herpes Simple Límite: Humans Idioma: En Revista: Sci Immunol Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos