Inherited human RelB deficiency impairs innate and adaptive immunity to infection.

Humans Transcription Factor RelB / genetics Immunity, Innate Adaptive Immunity / genetics Female Male B-Lymphocytes / immunology NF-kappa B p52 Subunit / genetics Adult Fibroblasts / metabolism Interferon Type I / immunology
NF-κB pathway RelB deficiency autoantibodies immunodeficiency type I IFNs

Journal

Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876

Informations de publication

Date de publication:
10 Sep 2024
Historique:
medline: 4 9 2024
pubmed: 4 9 2024
entrez: 4 9 2024
Statut: ppublish

Résumé

We report two unrelated adults with homozygous (P1) or compound heterozygous (P2) private loss-of-function variants of V-Rel Reticuloendotheliosis Viral Oncogene Homolog B (

Identifiants

DOI: 10.1073/pnas.2321794121 PMID: 39231201
pubmed: 39231201
doi: 10.1073/pnas.2321794121
doi:

Substances chimiques

Transcription Factor RelB 147337-75-5
RELB protein, human 0
NF-kappa B p52 Subunit 0
NFKB2 protein, human 0
Interferon Type I 0

Types de publication

Journal Article Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

e2321794121

Subventions

Organisme : HHMI (HHMI)
ID : N/A
Organisme : HHS | NIH | National Institute of Allergy and Infectious Diseases (NIAID)
ID : R01AI127564
Organisme : HHS | NIH | National Center for Advancing Translational Sciences (NCATS)
ID : UL1TR001866
Organisme : Agence Nationale de la Recherche (ANR)
ID : ANR-10-IAHU-01
Organisme : Agence Nationale de la Recherche (ANR)
ID : ANR-10-LABX-62-IBEID
Organisme : Fondation pour la Recherche Médicale (FRM)
ID : EQU201903007798
Organisme : Agence Nationale de la Recherche (ANR)
ID : ANR-20-CO11-0001
Organisme : Agence Nationale de la Recherche (ANR)
ID : ANR-18-CE93-0008
Organisme : Agence Nationale de la Recherche (ANR)
ID : ANR-22-CE15-0046
Organisme : Square Foundation
ID : N/A
Organisme : Grandir - Fonds de solidarité pour l'enfance
ID : N/A
Organisme : Fondation du Souffle (FdS)
ID : N/A
Organisme : William E. Ford, General Atlantic's Chairman and Chief Executive Officer, Gabriel Caillaux, General Atlantic's Co-President, Managing Director and Head of business in EMEA, General Atlantic Foundation
ID : N/A
Organisme : Imagine Institute
ID : N/A
Organisme : Institut National de la Santé et de la Recherche Médicale (Inserm)
ID : N/A
Organisme : Paris Cite University
ID : N/A
Organisme : Rockefeller University (The Rockefeller Institute)
ID : N/A
Organisme : Agence Nationale de la Recherche (ANR)
ID : ANR-21-RHUS-08-COVIFERON
Organisme : EC | HORIZON EUROPE Framework Programme (Horizon Europe)
ID : 01057100 (UNDINE)
Organisme : Bettencourt-Schueller Foundation
ID : N/A
Organisme : European Society for Immunodeficiencies (ESID)
ID : N/A
Organisme : FULBRIGHT | Fulbright U.S. Scholar Program
ID : N/A
Organisme : Philipp Foundation
ID : N/A
Organisme : apanese Foundation for Pediatric Research
ID : N/A
Organisme : New York Hideyo Noguchi Memorial Society
ID : N/A
Organisme : Funai Foundation for Information Technology
ID : N/A
Organisme : Honjo International Scholarship Foundation (HISF)
ID : N/A
Organisme : HHS | NIH | National Cancer Institute (NCI)
ID : F99CA274708
Organisme : Department of Health of the New South Wales Government of Australia
ID : N/A
Organisme : DHAC | National Health and Medical Research Council (NHMRC)
ID : 1113904
Organisme : DHAC | National Health and Medical Research Council (NHMRC)
ID : 1042925
Organisme : DHAC | National Health and Medical Research Council (NHMRC)
ID : 1176665
Organisme : HHS | NIH | NIAID | Division of Intramural Research (DIR, NIAID)
ID : N/A
Organisme : HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS)
ID : N/A
Organisme : Stavros Niarchos Foundation (SNF)
ID : N/A
Organisme : European Society for Immunodeficiencies (ESID)
ID : N/A

Déclaration de conflit d'intérêts

Competing interests statement:Tim Niehues was a co-author on publications with the following co-authors within the last 4 y: K.B., C.S.M., and S.G.T. (https://doi.org/10.1182/blood.2020006738) and K.B. (https://doi.org/10.1016/j.jaci.2019.11.051; https://doi.org/10.1002/eji.202048713). Andrew R. Gennery was a co-author with S.G.T. (https://doi.org/10.1016/j.jaci.2020.09.010; https://doi.org/10.1016/j.jaci.2022.09.002) within the last 4 y.

Auteurs

Tom Le Voyer (T)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.
Clinical Immunology Department, Assistance Publique Hôpitaux de Paris, Saint-Louis Hospital, Paris 75010, France.

Majistor Raj Luxman Maglorius Renkilaraj (MRL)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.

Kunihiko Moriya (K)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.

Malena Pérez Lorenzo (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.

Tina Nguyen (T)

Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Sydney, NSW 2052, Australia.

Liwei Gao (L)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.

Tamar Rubin (T)

Division of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada.

Axel Cederholm (A)

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala SE-751 05, Sweden.

Masato Ogishi (M)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.
ORCID: 0000-0003-2421-7389

Carlos A Arango-Franco (CA)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.
Group of Inborn Errors of Immunity, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín 050010, Colombia.

Vivien Béziat (V)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.
ORCID: 0000-0002-4020-824X

Romain Lévy (R)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.

Mélanie Migaud (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.

Franck Rapaport (F)

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

Yuval Itan (Y)

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029.

Elissa K Deenick (EK)

Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Sydney, NSW 2052, Australia.

Irene Cortese (I)

Experimental Immunotherapeutics Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892.

Andrea Lisco (A)

Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892.

Kaan Boztug (K)

St. Anna Children's Cancer Research Institute, Vienna 1090, Austria.
Medical University of Vienna, Department of Pediatrics and Adolescent Medicine, Vienna 1090, Austria.
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria.

Laurent Abel (L)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.

Stéphanie Boisson-Dupuis (S)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.

Bertrand Boisson (B)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.
ORCID: 0000-0001-5240-3555

Patrick Frosk (P)

Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB R3E 0W2, Canada.

Cindy S Ma (CS)

Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Sydney, NSW 2052, Australia.
ORCID: 0000-0001-5387-8413

Nils Landegren (N)

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala SE-751 05, Sweden.

Fatih Celmeli (F)

Department of Allergy and Immunology, University of Medical Science, Antalya Education and Research Hospital, Antalya 07100, Türkiye.
ORCID: 0000-0002-2983-5058

Jean-Laurent Casanova (JL)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.
Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris 75015, France.
HHMI, New York, NY 10065.
ORCID: 0000-0002-7782-4169

Stuart G Tangye (SG)

Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Sydney, NSW 2052, Australia.

Anne Puel (A)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Imagine Institute, Paris Cité University, Paris 75015, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.
ORCID: 0000-0003-2603-0323

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Inherited human RelB deficiency impairs innate...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteur de transcription NF-kappa B › Facteur de transcription RelB › Inherited human RelB deficiency impairs innate...
questionsmedicales.fr › Phénomènes du système immunitaire › Immunité › Immunité innée › Inherited human RelB deficiency impairs innate...
questionsmedicales.fr › Phénomènes du système immunitaire › Immunité › Immunité acquise › Inherited human RelB deficiency impairs innate...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes B › Inherited human RelB deficiency impairs innate...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteur de transcription NF-kappa B › Sous-unité p52 de NF-kappa B › Inherited human RelB deficiency impairs innate...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Inherited human RelB deficiency impairs innate...
questionsmedicales.fr › Cellules › Cellules du tissu conjonctif › Fibroblastes › Inherited human RelB deficiency impairs innate...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Interférons › Interféron de type I › Inherited human RelB deficiency impairs innate...