Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.

Humans Male Cell Cycle Proteins / metabolism Interferon-gamma / immunology Interleukin-12 Interleukin-23 Janus Kinase 2 / metabolism Mycobacterium / physiology Mycobacterium Infections / immunology Oncogene Proteins / metabolism
IL-23 JAK2 MCTS1 MSMD X-linked disease inborn error of immunity mycobacterium translation re-initiation

Journal

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

Informations de publication

Date de publication:
09 11 2023
Historique:
received: 11 11 2022
revised: 11 08 2023
accepted: 22 09 2023
medline: 13 11 2023
pubmed: 25 10 2023
entrez: 24 10 2023
Statut: ppublish

Résumé

Human inherited disorders of interferon-gamma (IFN-γ) immunity underlie severe mycobacterial diseases. We report X-linked recessive MCTS1 deficiency in men with mycobacterial disease from kindreds of different ancestries (from China, Finland, Iran, and Saudi Arabia). Complete deficiency of this translation re-initiation factor impairs the translation of a subset of proteins, including the kinase JAK2 in all cell types tested, including T lymphocytes and phagocytes. JAK2 expression is sufficiently low to impair cellular responses to interleukin-23 (IL-23) and partially IL-12, but not other JAK2-dependent cytokines. Defective responses to IL-23 preferentially impair the production of IFN-γ by innate-like adaptive mucosal-associated invariant T cells (MAIT) and γδ T lymphocytes upon mycobacterial challenge. Surprisingly, the lack of MCTS1-dependent translation re-initiation and ribosome recycling seems to be otherwise physiologically redundant in these patients. These findings suggest that X-linked recessive human MCTS1 deficiency underlies isolated mycobacterial disease by impairing JAK2 translation in innate-like adaptive T lymphocytes, thereby impairing the IL-23-dependent induction of IFN-γ.

Identifiants

DOI: 10.1016/j.cell.2023.09.024 PMID: 37875108
pubmed: 37875108
pii: S0092-8674(23)01078-4
doi: 10.1016/j.cell.2023.09.024
pii:
doi:

Substances chimiques

Cell Cycle Proteins 0
Interferon-gamma 82115-62-6
Interleukin-12 187348-17-0
Interleukin-23 0
JAK2 protein, human EC 2.7.10.2
Janus Kinase 2 EC 2.7.10.2
MCTS1 protein, human 0
Oncogene Proteins 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

5114-5134.e27

Subventions

Organisme : NHGRI NIH HHS
ID : UM1 HG006504
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI095983
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Organisme : NCI NIH HHS
ID : F99 CA274708
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG008956
Pays : United States

Informations de copyright

Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests J.-L.C. serves on the scientific advisory boards of ADMA Biologics Inc., Kymera Therapeutics, and Elixiron Immunotherapeutics.

Auteurs

Jonathan Bohlen (J)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany; Heidelberg University, 69120 Heidelberg, Germany. Electronic address: jonathan.bohlen@institutimagine.org.

Qinhua Zhou (Q)

St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA; Children's Hospital of Fudan University, 201102 Shanghai, China.

Quentin Philippot (Q)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Masato Ogishi (M)

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

Darawan Rinchai (D)

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

Tea Nieminen (T)

New Children's Hospital, 00290 Helsinki, Finland.

Simin Seyedpour (S)

Research Center for Immunodeficiencies, Tehran University of Medical Sciences, P94V+8MF Tehran, Iran; Nanomedicine Research Association (NRA), P94V+8MF Tehran, Iran.

Nima Parvaneh (N)

Research Center for Immunodeficiencies, Tehran University of Medical Sciences, P94V+8MF Tehran, Iran; Department of Pediatrics, Tehran University of Medical Sciences, P94V+8MF Tehran, Iran; Children's Medical Center, P94V+8MF Tehran, Iran.

Nima Rezaei (N)

Research Center for Immunodeficiencies, Tehran University of Medical Sciences, P94V+8MF Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), 1419733151 Tehran, Iran.

Niloufar Yazdanpanah (N)

Research Center for Immunodeficiencies, Tehran University of Medical Sciences, P94V+8MF Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), 1419733151 Tehran, Iran.

Mana Momenilandi (M)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Clément Conil (C)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Anna-Lena Neehus (AL)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Carltin Schmidt (C)

St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA; Faculty of Medicine, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.

Carlos A Arango-Franco (CA)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.

Tom Le Voyer (TL)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Taushif Khan (T)

College of Health and Life Sciences, Hamad Bin Khalifa University, 8C8M+6Q Doha, Qatar; Department of Immunology, Sidra Medicine, 8C8M+6Q Doha, Qatar; The Jackson Laboratory, Farmington, CT, USA.

Rui Yang (R)

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

Julia Puchan (J)

Institute of Microbiology, ETH Zürich, 8049 Zürich, Switzerland.

Lucia Erazo (L)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Mykola Roiuk (M)

German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany; Heidelberg University, 69120 Heidelberg, Germany.

Taja Vatovec (T)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; Heidelberg University, 69120 Heidelberg, Germany.

Zarah Janda (Z)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; Heidelberg University, 69120 Heidelberg, Germany.

Ivan Bagarić (I)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; Heidelberg University, 69120 Heidelberg, Germany.

Marie Materna (M)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Adrian Gervais (A)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Hailun Li (H)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Jérémie Rosain (J)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Jessica N Peel (JN)

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

Yoann Seeleuthner (Y)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Ji Eun Han (JE)

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

Anne-Sophie L'Honneur (AS)

Department of Virology, Cochin Hospital, AP-HP, 75015 Paris, France.

Marcela Moncada-Vélez (M)

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

Marta Martin-Fernandez (M)

Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Precision Immunology Institute, Icahn School, New York, NY 10029, USA; Mindich Child Health and Development Institute, Icahn School, New York, NY 10029, USA; Department of Pediatrics, Icahn School, New York, NY 10029, USA; Department of Microbiology, Icahn School, New York, NY 10029, USA.

Michael E Horesh (ME)

Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Precision Immunology Institute, Icahn School, New York, NY 10029, USA; Mindich Child Health and Development Institute, Icahn School, New York, NY 10029, USA; Department of Pediatrics, Icahn School, New York, NY 10029, USA; Department of Microbiology, Icahn School, New York, NY 10029, USA.

Tatiana Kochetkov (T)

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

Monika Schmidt (M)

University Hospital Erlangen, Institute of Clinical and Molecular Virology, Friedrich-Alexander Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.

Mohammed A AlShehri (MA)

King Fahad Medical City, Children's Specialized Hospital, 12231 Riyadh, Saudi Arabia.

Eeva Salo (E)

New Children's Hospital, 00290 Helsinki, Finland.

Harri Saxen (H)

New Children's Hospital, 00290 Helsinki, Finland.

Gehad ElGhazali (G)

Sheikh Khalifa Medical City- Union71, Purehealth, Abu Dhabi, United Arab Emirates, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

Ahmad Yatim (A)

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

Camille Soudée (C)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Federica Sallusto (F)

Institute of Microbiology, ETH Zürich, 8049 Zürich, Switzerland; Institute for Research in Biomedicine, Università della Svizzera Italiana, 6500 Bellinzona, Switzerland.

Armin Ensser (A)

University Hospital Erlangen, Institute of Clinical and Molecular Virology, Friedrich-Alexander Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.

Nico Marr (N)

College of Health and Life Sciences, Hamad Bin Khalifa University, 8C8M+6Q Doha, Qatar; Department of Immunology, Sidra Medicine, 8C8M+6Q Doha, Qatar.

Peng Zhang (P)

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

Dusan Bogunovic (D)

Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Precision Immunology Institute, Icahn School, New York, NY 10029, USA; Mindich Child Health and Development Institute, Icahn School, New York, NY 10029, USA; Department of Pediatrics, Icahn School, New York, NY 10029, USA; Department of Microbiology, Icahn School, New York, NY 10029, USA.

Aurélie Cobat (A)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.

Mohammad Shahrooei (M)

Clinical and Diagnostic Immunology, KU Leuven, 3000 Leuven, Belgium; Dr. Shahrooei Laboratory, 22 Bahman St., Ashrafi Esfahani Blvd, Tehran, Iran.

Vivien Béziat (V)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.

Laurent Abel (L)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.

Xiaochuan Wang (X)

Children's Hospital of Fudan University, 201102 Shanghai, China.

Stéphanie Boisson-Dupuis (S)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.

Aurelio A Teleman (AA)

German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany; Heidelberg University, 69120 Heidelberg, Germany.

Jacinta Bustamante (J)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA; Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, 75015 Paris, France. Electronic address: jacinta.bustamante@inserm.fr.

Qian Zhang (Q)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.

Jean-Laurent Casanova (JL)

Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Necker hospital for sick children, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, New York, NY 10032, USA; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France. Electronic address: casanova@rockefeller.edu.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Human MCTS1-dependent translation of JAK2 is...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cycle cellulaire › Human MCTS1-dependent translation of JAK2 is...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Lymphokines › Facteurs d'activation des macrophages › Interféron gamma › Human MCTS1-dependent translation of JAK2 is...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Interleukines › Interleukine-12 › Human MCTS1-dependent translation of JAK2 is...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Interleukines › Interleukine-23 › Human MCTS1-dependent translation of JAK2 is...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéines proto-oncogènes › Kinase Janus-2 › Human MCTS1-dependent translation of JAK2 is...
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 MCTS1-dependent translation of JAK2 is...
questionsmedicales.fr › Infection › Infections bactériennes et mycoses › Infections bactériennes › Infections bactériennes à Gram positif › Infections à Actinomycetales › Infections à Mycobacterium › Human MCTS1-dependent translation of JAK2 is...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Human MCTS1-dependent translation of JAK2 is...