Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria.

Adaptive Immunity Amino Acid Sequence Base Sequence Cell Lineage Child, Preschool Chromatin / metabolism CpG Islands / genetics DNA Methylation / genetics Dendritic Cells / metabolism Epigenesis, Genetic Female Homozygote Humans INDEL Mutation / genetics Immunity, Innate Infant Interferon-gamma / immunology Killer Cells, Natural / cytology Loss of Function Mutation / genetics Male Mycobacterium / immunology Mycobacterium Infections / genetics Pedigree T-Box Domain Proteins / chemistry T-Lymphocytes, Helper-Inducer / immunology Transcriptome / genetics
IFN-γ Mendelian susceptibility to mycobacterial disease T-bet immunodeficiency inborn errors of immunity innate lymphocyte innate-like adaptive lymphocyte mycobacterium

Journal

Cell
ISSN: 1097-4172
Titre abrégé: Cell
Pays: United States
ID NLM: 0413066

Informations de publication

Date de publication:
23 12 2020
Historique:
received: 16 01 2020
revised: 25 06 2020
accepted: 26 10 2020
pubmed: 10 12 2020
medline: 19 5 2021
entrez: 9 12 2020
Statut: ppublish

Résumé

Inborn errors of human interferon gamma (IFN-γ) immunity underlie mycobacterial disease. We report a patient with mycobacterial disease due to inherited deficiency of the transcription factor T-bet. The patient has extremely low counts of circulating Mycobacterium-reactive natural killer (NK), invariant NKT (iNKT), mucosal-associated invariant T (MAIT), and Vδ2

Identifiants

DOI: 10.1016/j.cell.2020.10.046 PMID: 33296702 PMC: PMC7770098
pubmed: 33296702
pii: S0092-8674(20)31453-7
doi: 10.1016/j.cell.2020.10.046
pmc: PMC7770098
mid: NIHMS1642684
pii:
doi:

Substances chimiques

Chromatin 0
T-Box Domain Proteins 0
T-box transcription factor TBX21 0
Interferon-gamma 82115-62-6

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

1826-1847.e31

Subventions

Organisme : NIAID NIH HHS
ID : R37 AI095983
Pays : United States
Organisme : NIAID NIH HHS
ID : U19 AI118626
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States

Informations de copyright

Copyright © 2020 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Interests L.H.G. serves on the Board of Directors of GlaxoSmithKline Pharmaceutical Company and the Analog Device Corporation and formerly served on the Boards of Bristol Myers Squibb Pharmaceutical Company and the Waters Corporation. She is also on the Scientific Advisory Boards of Abpro, Kaleido, and Repare biotechnology companies. J.-L.C. serves on the Scientific Advisory Boards of ADMA Biologics Inc., Celgene, and Kymera Therapeutics, Inc. He also consults for Elixiron Immunotherapeutics. Other authors declare no competing interests.

Auteurs

Rui Yang (R)

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA. Electronic address: ryang@rockefeller.edu.

Federico Mele (F)

Center of Medical Immunology, Institute for Research in Biomedicine, Faculty of Biomedical Sciences, University of Italian Switzerland (USI), 6500 Bellinzona, Switzerland.

Lisa Worley (L)

Garvan Institute of Medical Research, Darlinghurst 2010, NSW, Australia; St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Darlinghurst 2010, NSW, Australia.

David Langlais (D)

Department of Human Genetics, Department of Microbiology and Immunology, McGill University, Montreal, QC H3A 0G1, Canada; McGill University Genome Center, McGill Research Centre on Complex Traits, Montreal, QC H3A 0G1, Canada.

Jérémie Rosain (J)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France; University of Paris, Imagine Institute, 75015 Paris, France.

Ibithal Benhsaien (I)

Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, 20460 Casablanca, Morocco; Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Children's Hospital, CHU Averroes, 20460 Casablanca, Morocco.

Houda Elarabi (H)

Pediatrics Department, Hassan II Hospital, 80030 Dakhla, Morocco.

Carys A Croft (CA)

Innate Immunity Unit, Institut Pasteur, 75724 Paris, France; INSERM U1223, 75015 Paris, France; University of Paris, 75006 Paris, France.

Jean-Marc Doisne (JM)

Innate Immunity Unit, Institut Pasteur, 75724 Paris, France; INSERM U1223, 75015 Paris, France.

Peng Zhang (P)

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.

Marc Weisshaar (M)

Institute of Microbiology, ETH Zurich, 8093 Zurich, Switzerland.

David Jarrossay (D)

Center of Medical Immunology, Institute for Research in Biomedicine, Faculty of Biomedical Sciences, University of Italian Switzerland (USI), 6500 Bellinzona, Switzerland.

Daniela Latorre (D)

Institute of Microbiology, ETH Zurich, 8093 Zurich, Switzerland.

Yichao Shen (Y)

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.

Jing Han (J)

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.

Masato Ogishi (M)

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.

Conor Gruber (C)

Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Janet Markle (J)

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.

Fatima Al Ali (F)

Research Branch, Sidra Medicine, Doha, PO 26999, Qatar.

Mahbuba Rahman (M)

Research Branch, Sidra Medicine, Doha, PO 26999, Qatar.

Taushif Khan (T)

Research Branch, Sidra Medicine, Doha, PO 26999, Qatar.

Yoann Seeleuthner (Y)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France; University of Paris, Imagine Institute, 75015 Paris, France.

Gaspard Kerner (G)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France; University of Paris, Imagine Institute, 75015 Paris, France.

Lucas T Husquin (LT)

Human Evolutionary Genetics Unit, CNRS UMR2000, Institut Pasteur, 75015 Paris, France.

Julia L Maclsaac (JL)

BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

Mohamed Jeljeli (M)

University of Paris, 75006 Paris, France; Immunology Laboratory, Cochin Hospital, AH-HP, 75014 Paris, France.

Abderrahmane Errami (A)

Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, 20460 Casablanca, Morocco.

Fatima Ailal (F)

Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, 20460 Casablanca, Morocco; Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Children's Hospital, CHU Averroes, 20460 Casablanca, Morocco.

Michael S Kobor (MS)

BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

Carmen Oleaga-Quintas (C)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France; University of Paris, Imagine Institute, 75015 Paris, France.

Manon Roynard (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France; University of Paris, Imagine Institute, 75015 Paris, France.

Mathieu Bourgey (M)

McGill University Genome Center, McGill Research Centre on Complex Traits, Montreal, QC H3A 0G1, Canada; Canadian Centre for Computational Genomics, Montreal, QC H3A 0G1, Canada.

Jamila El Baghdadi (J)

Genetics Unit, Military Hospital Mohamed V, 10100 Rabat, Morocco.

Stéphanie Boisson-Dupuis (S)

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France; University of Paris, Imagine Institute, 75015 Paris, France.

Anne Puel (A)

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France; University of Paris, Imagine Institute, 75015 Paris, France.

Fréderic Batteux (F)

University of Paris, 75006 Paris, France; Immunology Laboratory, Cochin Hospital, AH-HP, 75014 Paris, France.

Flore Rozenberg (F)

University of Paris, 75006 Paris, France; Virology Laboratory, Cochin Hospital, AH-HP, 75014 Paris, France.

Nico Marr (N)

Research Branch, Sidra Medicine, Doha, PO 26999, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, PO 34110, Qatar.

Qiang Pan-Hammarström (Q)

Department of Biosciences and Nutrition, Karolinska Institutet, 17177 Stockholm, Sweden.

Dusan Bogunovic (D)

Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Lluis Quintana-Murci (L)

Human Evolutionary Genetics Unit, CNRS UMR2000, Institut Pasteur, 75015 Paris, France; Chair of Human Genomics and Evolution, Collège de France, 75005 Paris, France.

Thomas Carroll (T)

Bioinformatics Resource Center, The Rockefeller University, New York, NY 10065, USA.

Cindy S Ma (CS)

Garvan Institute of Medical Research, Darlinghurst 2010, NSW, Australia; St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Darlinghurst 2010, NSW, Australia.

Laurent Abel (L)

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France; University of Paris, Imagine Institute, 75015 Paris, France.

Aziz Bousfiha (A)

Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medicine and Pharmacy of Casablanca, King Hassan II University, 20460 Casablanca, Morocco; Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Children's Hospital, CHU Averroes, 20460 Casablanca, Morocco.

James P Di Santo (JP)

Innate Immunity Unit, Institut Pasteur, 75724 Paris, France; INSERM U1223, 75015 Paris, France.

Laurie H Glimcher (LH)

Department of Cancer Immunology and Virology, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Department of Immunology, Harvard Medical School, Boston, MA 02115, USA.

Philippe Gros (P)

McGill University Genome Center, McGill Research Centre on Complex Traits, Montreal, QC H3A 0G1, Canada; Department of Biochemistry, McGill University, Montreal, QC H3G 1Y6, Canada.

Stuart G Tangye (SG)

Garvan Institute of Medical Research, Darlinghurst 2010, NSW, Australia; St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Darlinghurst 2010, NSW, Australia.

Federica Sallusto (F)

Center of Medical Immunology, Institute for Research in Biomedicine, Faculty of Biomedical Sciences, University of Italian Switzerland (USI), 6500 Bellinzona, Switzerland; Institute of Microbiology, ETH Zurich, 8093 Zurich, Switzerland.

Jacinta Bustamante (J)

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France; University of Paris, Imagine Institute, 75015 Paris, France; Study Center for Primary Immunodeficiencies, Necker Children Hospital, AP-HP, 75015 Paris, France.

Jean-Laurent Casanova (JL)

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France; University of Paris, Imagine Institute, 75015 Paris, France; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France; Howard Hughes Medical Institute, New York, NY, USA. Electronic address: casanova@rockefeller.edu.

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Classifications MeSH

questionsmedicales.fr › Phénomènes du système immunitaire › Immunité › Immunité acquise › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Sciences de l'information › Sources d'information › Services d'information › Documentation › Données de séquences moléculaires › Séquence d'acides aminés › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Sciences de l'information › Sources d'information › Services d'information › Documentation › Données de séquences moléculaires › Séquence nucléotidique › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Développement embryonnaire et foetal › Développement embryonnaire › Lignage cellulaire › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Structures de chromosome › Chromatine › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Ilots CpG › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Phénomènes génétiques › Méthylation de l'ADN › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Système phagocytaire mononucléé › Cellules dendritiques › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Épigenèse génétique › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Homozygote › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Mutation de type INDEL › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Phénomènes du système immunitaire › Immunité › Immunité innée › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Lymphokines › Facteurs d'activation des macrophages › Interféron gamma › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Cellules tueuses naturelles › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation perte de fonction › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Bactéries › Bactéries à Gram positif › Bâtonnets à Gram positif › Bâtonnets asporogènes à Gram positif › Bâtonnets asporogènes réguliers à Gram positif › Mycobacteriaceae › Mycobacterium › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Infection › Infections bactériennes et mycoses › Infections bactériennes › Infections bactériennes à Gram positif › Infections à Actinomycetales › Infections à Mycobacterium › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines à domaine boîte-T › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes T › Sous-populations de lymphocytes T › Lymphocytes T auxiliaires › Human T-bet Governs Innate and Innate-like...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Transcriptome › Human T-bet Governs Innate and Innate-like...