Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in

Histocompatibility Antigens Class I / genetics Humans Intraepithelial Lymphocytes / immunology Minor Histocompatibility Antigens / genetics Mucosal-Associated Invariant T Cells Point Mutation Primary Immunodeficiency Diseases / genetics

Journal

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

Informations de publication

Date de publication:
24 07 2020
Historique:
received: 22 05 2020
accepted: 11 06 2020
entrez: 26 7 2020
pubmed: 28 7 2020
medline: 11 1 2022
Statut: ppublish

Résumé

The role unconventional T cells play in protective immunity in humans is unclear. Mucosal-associated invariant T (MAIT) cells are an unconventional T cell subset restricted to the antigen-presenting molecule MR1. Here, we report the discovery of a patient homozygous for a rare Arg31His (R9H in the mature protein) mutation in MR1 who has a history of difficult-to-treat viral and bacterial infections. MR1

Identifiants

DOI: 10.1126/sciimmunol.abc9492 PMID: 32709702 PMC: PMC8581949
pubmed: 32709702
pii: 5/49/eabc9492
doi: 10.1126/sciimmunol.abc9492
pmc: PMC8581949
mid: NIHMS1641291
pii:
doi:

Substances chimiques

Histocompatibility Antigens Class I 0
MR1 protein, human 0
Minor Histocompatibility Antigens 0

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Intramural NIH HHS
ID : Z01 AI000615
Pays : United States

Informations de copyright

Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

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Auteurs

Lauren J Howson (LJ)

Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia. jamie.rossjohn@monash.edu lauren.howson@monash.edu.
ORCID: 0000-0003-3522-4533

Wael Awad (W)

Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
Australian Research Council Centre of Excellence in Advanced Molecular Imaging, Monash University, Clayton, Victoria, Australia.
ORCID: 0000-0002-7597-2133

Anouk von Borstel (A)

Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
ORCID: 0000-0002-3605-7936

Hui Jing Lim (HJ)

Department of Microbiology and Immunology, University of Melbourne, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.
ORCID: 0000-0001-5045-4391

Hamish E G McWilliam (HEG)

Department of Microbiology and Immunology, University of Melbourne, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.
Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria, Australia.
ORCID: 0000-0003-3479-3419

Maria L Sandoval-Romero (ML)

Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
ORCID: 0000-0002-2323-223X

Shamik Majumdar (S)

Molecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.

Abdul Rezzak Hamzeh (AR)

Centre for Personalised Immunology, John Curtin School of Medical Research, Australian National University, Acton, Australian Capital Territory, Australia.
Department of Immunology, Canberra Hospital, Canberra, Australian Capital Territory, Australia.

Thomas D Andrews (TD)

Centre for Personalised Immunology, John Curtin School of Medical Research, Australian National University, Acton, Australian Capital Territory, Australia.
Department of Immunology, Canberra Hospital, Canberra, Australian Capital Territory, Australia.
ORCID: 0000-0003-3922-6376

David H McDermott (DH)

Molecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
ORCID: 0000-0001-6978-0867

Philip M Murphy (PM)

Molecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
ORCID: 0000-0002-1080-8201

Jérôme Le Nours (J)

Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
Australian Research Council Centre of Excellence in Advanced Molecular Imaging, Monash University, Clayton, Victoria, Australia.
ORCID: 0000-0002-2221-7636

Jeffrey Y W Mak (JYW)

Division of Chemistry and Structural Biology, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
ARC Centre of Excellence in Advanced Molecular Imaging, University of Queensland, Brisbane, Queensland, Australia.
ORCID: 0000-0002-8011-4539

Ligong Liu (L)

Division of Chemistry and Structural Biology, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
ARC Centre of Excellence in Advanced Molecular Imaging, University of Queensland, Brisbane, Queensland, Australia.
ORCID: 0000-0002-2693-1896

David P Fairlie (DP)

Division of Chemistry and Structural Biology, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
ARC Centre of Excellence in Advanced Molecular Imaging, University of Queensland, Brisbane, Queensland, Australia.
ORCID: 0000-0002-7856-8566

James McCluskey (J)

Department of Microbiology and Immunology, University of Melbourne, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.
ORCID: 0000-0002-8597-815X

Jose A Villadangos (JA)

Department of Microbiology and Immunology, University of Melbourne, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.
Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria, Australia.
ORCID: 0000-0001-6771-8891

Matthew C Cook (MC)

Centre for Personalised Immunology, John Curtin School of Medical Research, Australian National University, Acton, Australian Capital Territory, Australia.
Department of Immunology, Canberra Hospital, Canberra, Australian Capital Territory, Australia.

Stephen J Turner (SJ)

Department of Microbiology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
ORCID: 0000-0002-1002-0000

Martin S Davey (MS)

Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
ORCID: 0000-0002-3463-3127

Samar Ojaimi (S)

Department of Infectious Diseases, Monash Health, Clayton, Victoria, Australia.
Centre for Inflammatory Diseases, Monash University, Clayton, Victoria, Australia.
Department of Allergy and Immunology, Monash Health, Clayton, Victoria, Australia.
ORCID: 0000-0003-2129-1866

Jamie Rossjohn (J)

Infection and Immunity Program and Department of Biochemistry and Molecular Biology, Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia. jamie.rossjohn@monash.edu lauren.howson@monash.edu.
Australian Research Council Centre of Excellence in Advanced Molecular Imaging, Monash University, Clayton, Victoria, Australia.
Institute of Infection and Immunity, Cardiff University School of Medicine, Heath Park, Cardiff, UK.
ORCID: 0000-0002-2020-7522

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Classifications MeSH

questionsmedicales.fr › Facteurs biologiques › Antigènes › Isoantigènes › Antigènes d'histocompatibilité › Antigènes d'histocompatibilité de classe I › Absence of mucosal-associated invariant T...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Absence of mucosal-associated invariant T...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes T › Sous-populations de lymphocytes T › Lymphocytes intra-épithéliaux › Absence of mucosal-associated invariant T...
questionsmedicales.fr › Facteurs biologiques › Antigènes › Isoantigènes › Antigènes d'histocompatibilité › Antigènes mineurs d'histocompatibilité › Absence of mucosal-associated invariant T...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes T › Sous-populations de lymphocytes T › Cellules T invariantes associées aux muqueuses › Absence of mucosal-associated invariant T...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation ponctuelle › Absence of mucosal-associated invariant T...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Maladies d'immunodéficience primaire › Absence of mucosal-associated invariant T...