Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency.

Humans Cell Death Encephalitis, Herpes Simplex / genetics Herpes Simplex Herpesvirus 1, Human / metabolism Receptor-Interacting Protein Serine-Threonine Kinases / genetics Receptors, Tumor Necrosis Factor, Type I Toll-Like Receptor 3 / genetics

Journal

Science immunology
ISSN: 2470-9468
Titre abrégé: Sci Immunol
Pays: United States
ID NLM: 101688624

Informations de publication

Date de publication:
21 04 2023
Historique:
medline: 25 4 2023
pubmed: 21 4 2023
entrez: 21 04 2023
Statut: ppublish

Résumé

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*)

Identifiants

DOI: 10.1126/sciimmunol.ade2860 PMID: 37083451 PMC: PMC10337828
pubmed: 37083451
doi: 10.1126/sciimmunol.ade2860
pmc: PMC10337828
mid: NIHMS1911516
doi:

Substances chimiques

Receptor-Interacting Protein Serine-Threonine Kinases EC 2.7.11.1
Receptors, Tumor Necrosis Factor, Type I 0
RIPK3 protein, human EC 2.7.11.1
Toll-Like Receptor 3 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

eade2860

Subventions

Organisme : NIAID NIH HHS
ID : R21 AI151663
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NEI NIH HHS
ID : R21 EY030215
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI088364
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS072381
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY024630
Pays : United States

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Auteurs

Zhiyong Liu (Z)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
ORCID: 0000-0001-6473-348X

Eduardo J Garcia Reino (EJ)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
ORCID: 0000-0002-4781-3864

Oliver Harschnitz (O)

The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, NY, USA.
Human Technopole, Viale Rita Levi-Montalcini, Milan, Italy.
ORCID: 0000-0001-6496-881X

Hongyan Guo (H)

Department of Microbiology and Immunology, Emory Vaccine Center, Emory University, GA, USA.
School of Medicine, Atlanta, GA, USA.
Louisiana State University Health Sciences Center at Shreveport (LSUHSC-S), Shreveport, LA, USA.
ORCID: 0000-0002-6286-1741

Yi-Hao Chan (YH)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
ORCID: 0000-0003-0329-238X

Noopur V Khobrekar (NV)

The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, NY, USA.

Mary L Hasek (ML)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
ORCID: 0000-0001-8902-6431

Kerry Dobbs (K)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.
ORCID: 0000-0002-3432-3137

Darawan Rinchai (D)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
ORCID: 0000-0001-8851-7730

Marie Materna (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.
ORCID: 0000-0003-2145-5285

Daniela Matuozzo (D)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.
ORCID: 0000-0001-9514-3837

Danyel Lee (D)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.
ORCID: 0000-0003-3124-0245

Paul Bastard (P)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.
Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
ORCID: 0000-0002-5926-8437

Jie Chen (J)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

Yoon Seung Lee (YS)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
ORCID: 0000-0002-9988-8905

Seong K Kim (SK)

School of Medicine, Atlanta, GA, USA.

Shuxiang Zhao (S)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
ORCID: 0000-0001-9185-6813

Param Amin (P)

The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, NY, USA.

Lazaro Lorenzo (L)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.
ORCID: 0000-0001-6648-8684

Yoann Seeleuthner (Y)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.

Remi Chevalier (R)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.
ORCID: 0000-0002-8611-1937

Laure Mazzola (L)

Department of Pediatrics, Hôpital Nord, Saint-Etienne, Paris, France.

Claire Gay (C)

Department of Pediatrics, Hôpital Nord, Saint-Etienne, Paris, France.

Jean-Louis Stephan (JL)

Department of Pediatrics, Hôpital Nord, Saint-Etienne, Paris, France.

Baptiste Milisavljevic (B)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

Soraya Boucherit (S)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.
ORCID: 0000-0002-8819-7594

Flore Rozenberg (F)

Laboratory of Virology, Assistance Publique-Hôpitaux de Paris (AP-HP), Cochin Hospital, Paris, France.

Rebeca Perez de Diego (R)

Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.
Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.
Interdepartmental Group of Immunodeficiencies, Madrid, Spain.
ORCID: 0000-0001-8426-8765

Richard D Dix (RD)

Viral Immunology Center, Department of Biology, Georgia State University, Atlanta, GA, USA.
Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA, USA.
ORCID: 0000-0002-7317-3549

Nico Marr (N)

Research Branch, Sidra Medicine, Doha, Qatar.
Institute of Translational Immunology, Brandenburg Medical School, Brandenburg an der Havel, Germany.
College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
ORCID: 0000-0002-1927-7072

Vivien Béziat (V)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.
ORCID: 0000-0002-4020-824X

Aurelie Cobat (A)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.
ORCID: 0000-0001-7209-6257

Mélodie Aubart (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Pediatric Neurology Department, Necker Hospital for Sick Children, APHP, Paris City University, Paris, France.
ORCID: 0000-0002-4383-7930

Laurent Abel (L)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.
ORCID: 0000-0001-7016-6493

Stephane Chabrier (S)

Department of Pediatrics, Hôpital Nord, Saint-Etienne, Paris, France.
ORCID: 0000-0002-6816-3266

Gregory A Smith (GA)

Department of Microbiology-Immunology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Luigi D Notarangelo (LD)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.
ORCID: 0000-0002-8335-0262

Edward S Mocarski (ES)

Department of Microbiology and Immunology, Emory Vaccine Center, Emory University, GA, USA.

Lorenz Studer (L)

The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, NY, USA.
ORCID: 0000-0003-0741-7987

Jean-Laurent Casanova (JL)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.
Department of Pediatrics, Necker Hospital for Sick Children, Paris, France.
Howard Hughes Medical Institute, New York, NY, USA.
ORCID: 0000-0002-7782-4169

Shen-Ying Zhang (SY)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Paris City University, Imagine Institute, Paris, France.
ORCID: 0000-0002-9449-3672

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Encephalitis and poor neuronal death-mediated...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Mort cellulaire › Encephalitis and poor neuronal death-mediated...
questionsmedicales.fr › Maladies du système nerveux › Encéphalite › Encéphalite infectieuse › Encéphalite virale › Encéphalite à herpès simplex › Encephalitis and poor neuronal death-mediated...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Infections de la peau › Dermatoses virales › Herpès › Encephalitis and poor neuronal death-mediated...
questionsmedicales.fr › Virus › Virus à ADN › Herpesviridae › Alphaherpesvirinae › Simplexvirus › Herpèsvirus humain de type 1 › Encephalitis and poor neuronal death-mediated...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protein-Serine-Threonine Kinases › Receptor-Interacting Protein Serine-Threonine Kinases › Encephalitis and poor neuronal death-mediated...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs immunologiques › Récepteurs aux cytokines › Récepteurs aux facteurs de nécrose tumorale › Récepteur au facteur de nécrose tumorale de type I › Encephalitis and poor neuronal death-mediated...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs immunologiques › Récepteurs de reconnaissance de motifs moléculaires › Récepteurs de type Toll › Récepteur de type Toll-3 › Encephalitis and poor neuronal death-mediated...