ArticleThe Journal of experimental medicine2019
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.
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Article in The Journal of experimental medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed, 2 pooled it
4.5field-weighted citation impact, top 4% of its field
What it found
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Who cites it
49 citing papers in PubMed, 2 syntheses or guidelines pooled it, 89 citations in OpenAlex.
- Screening of core genes prognostic for sepsis and construction of a ceRNA regulatory network.BMC medical genomics · 2023Pooled it
- Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.Frontiers in immunology · 2021Pooled it
- Primary atopic disorders: Monogenic insights into immunity.Journal of human immunity · 2026Review
- Functional immune profiling reveals CD4Immunology and cell biology · 2026Article
- Stem cell factor 248 shapes ILC2 transcriptional programs and promotes mucosal inflammation in allergic asthma.Frontiers in immunology · 2026Article
- Noninvasive prediction of operational tolerance in liver transplantation based on a peripheral blood transcriptional biomarker panel.Translational gastroenterology and hepatology · 2026Article
- Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.ImmunoTargets and therapy · 2026Review
- Proteomic profiling reveals treatment-dependent inflammatory signatures and identifies biomarkers of refractory age-related macular degeneration.Frontiers in pharmacology · 2026Article
- Mutant IL-2-expressing mesenchymal stromal cells promote regulatory T cells proliferation and activation in collagen induced arthritis mice.Arthritis research & therapy · 2025Article
- Inborn errors of regulatory T-cell differentiation and function.The Journal of allergy and clinical immunology · 2025Review
- Article
- Dysregulation of homeostatic cytokine receptors drives prolonged T cell activation following acute SARS-CoV-2 infection in humans.Nature communications · 2025Article
- A hypomorphic Il2rb mutant mouse model recapitulates and reveals mechanisms of human T cell immune dysregulation in IL-2Rβ deficiency.Cell reports · 2025Article
- Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency.Journal of clinical immunology · 2025Article
- Based on the immune system: the role of the IL-2 family in pancreatic disease.Frontiers in immunology · 2025Review
- Tregopathy in focus.Frontiers in immunology · 2025Article
- Cellular and molecular basis of proximal small intestine disorders.Nature reviews. Gastroenterology & hepatology · 2024Review
- Tipping the balance in autoimmunity: are regulatory t cells the cause, the cure, or both?Molecular and cellular pediatrics · 2024Review
- Infections in Disorders of Immune Regulation.Pathogens (Basel, Switzerland) · 2024Review
- Exploring Immune Cell Diversity in the Lacrimal Glands of Healthy Mice: A Single-Cell RNA-Sequencing Atlas.International journal of molecular sciences · 2024Article
Corrections and comments
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Authors and funding
28 authors at 11 institutions in 6 countries.
Zinan Zhang *Cambridge Institute of Therapeutic Immunology and Infectious Disease, and the Department of Medicine, University of Cambridge, Cambridge, UK.ORCID 0000-0003-3831-2272
Florian Gothe *Institute of Cellular Medicine, Newcastle University, Newcastle, UK.
Perrine Pennamen *University of Bordeaux, Maladies Rares: Génétique et Métabolisme Institut National de la Santé et de la Recherche Médicale U1211, Centre Hospitalier Universitaire de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
John R JamesMolecular Immunity Unit, Department of Medicine, Medical Research Council Laboratory of Molecular Biology, University of Cambridge, Cambridge, UK.
David McDonaldInstitute of Cellular Medicine, Newcastle University, Newcastle, UK.
Carlos P MataCambridge Institute of Therapeutic Immunology and Infectious Disease, and the Department of Medicine, University of Cambridge, Cambridge, UK.ORCID 0000-0003-3381-7431
Yorgo ModisCambridge Institute of Therapeutic Immunology and Infectious Disease, and the Department of Medicine, University of Cambridge, Cambridge, UK.ORCID 0000-0002-6084-0429
Anas M AlazamiDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Meghan AcresInstitute of Cellular Medicine, Newcastle University, Newcastle, UK.
Wolfram HallerBirmingham Children's Hospital, Birmingham, UK.ORCID 0000-0002-0518-7383
Claire BowenBirmingham Children's Hospital, Birmingham, UK.
Rainer DöffingerDepartment of Clinical Biochemistry and Immunology, Cambridge University Hospital, Cambridge, UK.
Jan SinclairStarship Children's Hospital, Auckland, New Zealand.ORCID 0000-0002-1188-0096
Shannon BrothersStarship Children's Hospital, Auckland, New Zealand.
Yu ZhangMolecular Development of the Immune System Section, Laboratory of Immune System Biology and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Helen F MatthewsMolecular Development of the Immune System Section, Laboratory of Immune System Biology and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Sophie NaudionUniversity of Bordeaux, Maladies Rares: Génétique et Métabolisme Institut National de la Santé et de la Recherche Médicale U1211, Centre Hospitalier Universitaire de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Fanny PelluardDepartment of Pathology, Centre Hospitalier Universitaire Bordeaux, Bordeaux, France.ORCID 0000-0003-1874-2742
Huda AlajlanDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Yasuhiro YamazakiImmune Deficiency Genetics Section, Laboratory of Clinical Immunology and Microbiology and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Luigi D NotarangeloImmune Deficiency Genetics Section, Laboratory of Clinical Immunology and Microbiology and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.ORCID 0000-0002-8335-0262
James E ThaventhiranCambridge Institute of Therapeutic Immunology and Infectious Disease, and the Department of Medicine, University of Cambridge, Cambridge, UK.ORCID 0000-0001-8616-074X
Karin R EngelhardtInstitute of Cellular Medicine, Newcastle University, Newcastle, UK.
Hamoud Al-MousaDepartment of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Sophie Hambleton *Institute of Cellular Medicine, Newcastle University, Newcastle, UK sophie.hambleton@newcastle.ac.uk.ORCID 0000-0001-7954-3267
Caroline Rooryck *University of Bordeaux, Maladies Rares: Génétique et Métabolisme Institut National de la Santé et de la Recherche Médicale U1211, Centre Hospitalier Universitaire de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Kenneth G C Smith *Cambridge Institute of Therapeutic Immunology and Infectious Disease, and the Department of Medicine, University of Cambridge, Cambridge, UK kgcs2@cam.ac.uk.ORCID 0000-0003-3829-4326
Michael J Lenardo *Molecular Development of the Immune System Section, Laboratory of Immune System Biology and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD MLENARDO@niaid.nih.gov.ORCID 0000-0003-1584-468X
National Institutes of Health · USKing Faisal Specialist Hospital & Research Centre · SAMRC Laboratory of Molecular Biology · GBNewcastle University · GBUniversité de Bordeaux · FRUniversity of Cambridge · GBBirmingham Children's Hospital · GBStarship Children's Health · NZCentre Hospitalier Universitaire de Bordeaux · FRLudwig-Maximilians-Universität München · DENational Health Service · GB
Funding
Characterization of the cellular and molecular bases of inborn errors of immunityZIAAI001222 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2017 to 2025
$15.2MMolecular Mechanisms and Treatment Of Autoimmunity In Man And Animal ModelsZIAAI000717 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI SU, HELEN CHUN-HUI · 2009 to 2025
$13.2MDepartment of HealthWellcome Trust 083650/Z/07/ZWellcome Trust 099966/Z/12/ZWellcome Trust 101908Wellcome Trust 101908/Z/13/ZWellcome Trust 207556/Z/17/Z
Abstract
Interleukin-2, which conveys essential signals for immunity, operates through a heterotrimeric receptor. Here we identify human interleukin-2 receptor (IL-2R) β chain (
Indexed as
AllelesAutoimmunityGenotypeHEK293 CellsHumansImmune ToleranceImmunityImmunologic Deficiency SyndromesInterleukin-2 Receptor beta SubunitKiller Cells, NaturalLentivirusMutationMutation, MissensePhenotypePhosphorylationSignal TransductionIL2RB protein, humanInterleukin-2 Receptor beta SubunitSTAT3 Transcription FactorSTAT5 Transcription Factor
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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.