ArticleProceedings of the National Academy of Sciences of the United States of America2024
Inherited human RelB deficiency impairs innate and adaptive immunity to infection.
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7citing papers in PubMed
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7 citing papers in PubMed.
- Fungal Infections in Disorders of Inborn Errors of Immunity.Clinical reviews in allergy & immunology · 2026Review
- SRSF2 mutations drive daunorubicin resistance in acute myeloid leukemia via THBS1 stabilization.Journal of experimental & clinical cancer research : CR · 2026Article
- Human inborn errors of the alternative NF-κB pathway.Journal of human immunity · 2026Review
- Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.The Journal of experimental medicine · 2025Article
- Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- Long-term outcome of bone marrow transplantation in NIK deficiency: non-redundant role of non-canonical NF-κB signaling in thymic reconstitution and secondary lymphoid organ development.Frontiers in immunology · 2025Article
- Genetics of progressive multifocal leukoencephalopathy: update on case reports with an inborn error of immunity and risk variants found in drug-linked cases.Frontiers in neurology · 2025Review
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Authors and funding
29 authors.
Tom Le Voyer *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Majistor Raj Luxman Maglorius Renkilaraj *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Kunihiko Moriya *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Malena Pérez Lorenzo *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Tina Nguyen *Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
Liwei Gao *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Tamar Rubin *Division of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada.
Axel Cederholm *Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala SE-751 05, Sweden.
Masato Ogishi *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-FrancoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Vivien BéziatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.ORCID 0000-0002-4020-824X
Romain LévyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Mélanie MigaudLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Franck RapaportSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.
Yuval ItanDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Elissa K DeenickGarvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
Irene CorteseExperimental Immunotherapeutics Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892.
Andrea LiscoLaboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892.
Kaan BoztugSt. Anna Children's Cancer Research Institute, Vienna 1090, Austria.
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Stéphanie Boisson-DupuisLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.
Bertrand BoissonLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.ORCID 0000-0001-5240-3555
Patrick FroskDepartment of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB R3E 0W2, Canada.
Cindy S MaGarvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.ORCID 0000-0001-5387-8413
Nils LandegrenScience for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala SE-751 05, Sweden.
Fatih CelmeliDepartment of Allergy and Immunology, University of Medical Science, Antalya Education and Research Hospital, Antalya 07100, Türkiye.ORCID 0000-0002-2983-5058
Jean-Laurent Casanova *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.ORCID 0000-0002-7782-4169
Stuart G Tangye *Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
Anne Puel *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris 75015, France.ORCID 0000-0003-2603-0323
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MGenome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova · 2017 to 2026
$4.8MGenetic and immunological dissection of coinhibitory crosstalks between human T cells and cancer cellsF99CA274708 · NCI · ROCKEFELLER UNIVERSITY · PI OGISHI, MASATO · 2022 to 2023
$96kAgence Nationale de la Recherche (ANR) ANR-10-IAHU-01Agence Nationale de la Recherche (ANR) ANR-10-LABX-62-IBEIDAgence Nationale de la Recherche (ANR) ANR-18-CE93-0008Agence Nationale de la Recherche (ANR) ANR-20-CO11-0001Agence Nationale de la Recherche (ANR) ANR-21-RHUS-08-COVIFERONAgence Nationale de la Recherche (ANR) ANR-22-CE15-0046apanese Foundation for Pediatric Research N/ABettencourt-Schueller Foundation N/ADepartment of Health of the New South Wales Government of Australia N/ADHAC | National Health and Medical Research Council (NHMRC) 1042925DHAC | National Health and Medical Research Council (NHMRC) 1113904DHAC | National Health and Medical Research Council (NHMRC) 1176665EC | HORIZON EUROPE Framework Programme (Horizon Europe) 01057100 (UNDINE)European Society for Immunodeficiencies (ESID) N/AFondation du Souffle (FdS) N/AFondation pour la Recherche Médicale (FRM) EQU201903007798FULBRIGHT | Fulbright U.S. Scholar Program N/AFunai Foundation for Information Technology N/AGrandir - Fonds de solidarité pour l'enfance N/AHHMI (HHMI) N/AHHS | NIH | National Cancer Institute (NCI) F99CA274708HHS | NIH | National Center for Advancing Translational Sciences (NCATS) UL1TR001866HHS | NIH | National Institute of Allergy and Infectious Diseases (NIAID) R01AI127564HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) N/AHHS | NIH | NIAID | Division of Intramural Research (DIR, NIAID) N/AHonjo International Scholarship Foundation (HISF) N/AImagine Institute N/AInstitut National de la Santé et de la Recherche Médicale (Inserm) N/ANCATS NIH HHS UL1 TR001866NCI NIH HHS F99 CA274708New York Hideyo Noguchi Memorial Society N/ANIAID NIH HHS R01 AI127564Paris Cite University N/APhilipp Foundation N/ARockefeller University (The Rockefeller Institute) N/ASquare Foundation N/AStavros Niarchos Foundation (SNF) N/AWilliam 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 N/A
Abstract
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 (
Indexed as
Adaptive ImmunityImmunity, InnateTranscription Factor RelBAdultB-LymphocytesFemaleFibroblastsHumansInterferon Type IMaleNF-kappa B p52 SubunitInterferon Type INF-kappa B p52 SubunitNFKB2 protein, humanRELB protein, humanTranscription Factor RelBautoantibodiesimmunodeficiencyNF-κB pathwayRelB deficiencytype I IFNs
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LicenceCC BY
Read underepoch 390
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.