Severe influenza pneumonitis in children with inherited TLR3 deficiency.

Alleles Child Child, Preschool Epithelial Cells / drug effects Fatal Outcome Female Fibroblasts / drug effects Heterozygote Humans Induced Pluripotent Stem Cells / drug effects Infant Infant, Newborn Influenza A virus / drug effects Influenza, Human / genetics Inheritance Patterns / genetics Interferons / metabolism Loss of Function Mutation / genetics Lung / pathology Male Mutation, Missense / genetics Pneumonia / genetics Poly I-C / pharmacology Protein Transport Toll-Like Receptor 3 / deficiency

Journal

The Journal of experimental medicine
ISSN: 1540-9538
Titre abrégé: J Exp Med
Pays: United States
ID NLM: 2985109R

Informations de publication

Date de publication:
02 09 2019
Historique:
received: 22 08 2018
revised: 10 04 2019
accepted: 09 05 2019
pubmed: 21 6 2019
medline: 11 6 2020
entrez: 21 6 2019
Statut: ppublish

Résumé

Autosomal recessive IRF7 and IRF9 deficiencies impair type I and III IFN immunity and underlie severe influenza pneumonitis. We report three unrelated children with influenza A virus (IAV) infection manifesting as acute respiratory distress syndrome (IAV-ARDS), heterozygous for rare

Identifiants

DOI: 10.1084/jem.20181621 PMID: 31217193 PMC: PMC6719423
pubmed: 31217193
pii: jem.20181621
doi: 10.1084/jem.20181621
pmc: PMC6719423
doi:

Substances chimiques

TLR3 protein, human 0
Toll-Like Receptor 3 0
Interferons 9008-11-1
Poly I-C O84C90HH2L

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

2038-2056

Subventions

Organisme : NIGMS NIH HHS
ID : T32 GM066699
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS072381
Pays : United States
Organisme : NIAID NIH HHS
ID : HHSN272201400008C
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Organisme : NIAID NIH HHS
ID : R21 AI137371
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI088364
Pays : United States
Organisme : NIAID NIH HHS
ID : U19 AI111825
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007739
Pays : United States

Informations de copyright

© 2019 Lim et al.

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Auteurs

Hye Kyung Lim (HK)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Paris Descartes University, Imagine Institute, Paris, France.
ORCID: 0000-0003-2202-0312

Sarah X L Huang (SXL)

Columbia Center for Translational Immunology, Columbia University Medical Center, New York, NY.
Department of Medicine, Columbia University Medical Center, New York, NY.
Center for Stem Cell and Regenerative Medicine, University of Texas Health Science Center at Texas, Houston, TX.

Jie Chen (J)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Department of Infectious Diseases, Shanghai Sixth Hospital, Shanghai Jiaotong University, Shanghai, China.
ORCID: 0000-0002-5847-4888

Gaspard Kerner (G)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Paris Descartes University, Imagine Institute, Paris, France.
ORCID: 0000-0003-0146-9428

Olivier Gilliaux (O)

Laboratory of Experimental Medicine (ULB222), Medicine Faculty, Libre de Bruxelles University, Brussels, Belgium.
Department of Pediatrics, University Hospital Center of Charleroi, Charleroi, Belgium.
ORCID: 0000-0002-0254-7013

Paul Bastard (P)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Paris Descartes University, Imagine Institute, Paris, France.
ORCID: 0000-0002-5926-8437

Kerry Dobbs (K)

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

Nicholas Hernandez (N)

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

Nicolas Goudin (N)

Cell Imaging Platform Structure Fédérative de Recherche Necker, Institut National de la Santé et de la Recherche Médicale US 24, Paris, France.
ORCID: 0000-0002-3967-4016

Mary L Hasek (ML)

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

Eduardo Javier García Reino (EJ)

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

Fabien G Lafaille (FG)

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

Lazaro Lorenzo (L)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Paris Descartes University, Imagine Institute, Paris, France.
ORCID: 0000-0001-6648-8684

Priya Luthra (P)

Department of Microbiology, Global Health and Emerging Pathogens Institute, The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY.
Department of Medicine, Division of Infectious Diseases, Icahn School of Medicine at Mount Sinai, New York, NY.

Tatiana Kochetkov (T)

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

Benedetta Bigio (B)

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

Soraya Boucherit (S)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Paris Descartes University, Imagine Institute, Paris, France.
ORCID: 0000-0002-8819-7594

Flore Rozenberg (F)

Virology, Cochin-Saint-Vincent de Paul Hospital, Paris Descartes University, Paris, France.

Catherine Vedrinne (C)

Department of Anesthesia and Intensive Care Medicine in Cardiovascular Surgery, Louis Pradel Cardiological Hospital, Lyon, France.

Michael D Keller (MD)

Division of Allergy and Immunology, Center for Cancer and Immunology Research, Children's National Health System, Washington, DC.

Yuval Itan (Y)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.

Adolfo García-Sastre (A)

Department of Microbiology, Global Health and Emerging Pathogens Institute, The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY.
Department of Medicine, Division of Infectious Diseases, Icahn School of Medicine at Mount Sinai, New York, NY.
ORCID: 0000-0002-6551-1827

Marie Celard (M)

National Center for Staphylococcus, Lyon Civil Hospital, Lyon, France.

Jordan S Orange (JS)

Texas Children's Hospital, Baylor College of Medicine, Houston, TX.

Michael J Ciancanelli (MJ)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
ORCID: 0000-0002-4623-852X

Isabelle Meyts (I)

Laboratory for Inborn Errors of Immunity, Department of Immunology, Microbiology, and Transplantation, Katholieke Universiteit Leuven, Leuven, Belgium.
Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
Precision Immunology Institute and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY.

Qian Zhang (Q)

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

Laurent Abel (L)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Paris Descartes University, Imagine Institute, Paris, France.
ORCID: 0000-0001-7016-6493

Luigi D Notarangelo (LD)

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

Hans-Willem Snoeck (HW)

Columbia Center for Translational Immunology, Columbia University Medical Center, New York, NY.
Department of Medicine, Columbia University Medical Center, New York, NY.

Jean-Laurent Casanova (JL)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Paris Descartes University, Imagine Institute, Paris, France.
Pediatric Immuno-Hematology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris, Paris, France.
Howard Hughes Medical Institute, New York, NY.
ORCID: 0000-0002-7782-4169

Shen-Ying Zhang (SY)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY shzh289@rockefeller.edu.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Paris Descartes University, Imagine Institute, Paris, France.
ORCID: 0000-0002-9449-3672

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Cellules › Cellules épithéliales › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Registre civil › Mortalité › Issue fatale › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Cellules › Cellules du tissu conjonctif › Fibroblastes › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Virus › Virus à ARN › Virus à ARN de polarité négative › Orthomyxoviridae › Influenzavirus A › Virus de la grippe A › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Maladies de l'appareil respiratoire › Infections de l'appareil respiratoire › Grippe humaine › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Interférons › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation perte de fonction › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Appareil respiratoire › Poumon › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Maladies de l'appareil respiratoire › Infections de l'appareil respiratoire › Pneumopathie infectieuse › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Nucléotides › Polynucléotides › Polyribonucléotides › Poly I › Poly I-C › Severe influenza pneumonitis in children with...
questionsmedicales.fr › Métabolisme › Transport biologique › Transport des protéines › Severe influenza pneumonitis in children with...
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 › Severe influenza pneumonitis in children with...