ArticleNature2020
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Erratum issuedOpen access · bronzeAbstract read
In one paragraph
Article in Nature, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 134 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
134citing papers in PubMed, 2 pooled it
11.3field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
134 citing papers in PubMed, 2 syntheses or guidelines pooled it, 234 citations in OpenAlex.
- Leveraging pleiotropy identifies common-variant associations with selective IgA deficiency.Clinical immunology (Orlando, Fla.) · 2024Pooled it
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.International journal of molecular sciences · 2026Article
- Ptpn2 limits plasma cell fate and antiviral immunity by integrating B cell receptor and IFN-γ signals in B cells.Science advances · 2026Article
- Genome sequencing for the diagnosis of rare disorders: The Brazilian Rare Genomes Project.HGG advances · 2026Article
- Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.The Journal of allergy and clinical immunology · 2026Article
- A Novel PTPN2 Isoform Differentially Regulates Immune Response.European journal of immunology · 2026Article
- STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings.European journal of medical genetics · 2026Article
- Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations.International journal of molecular sciences · 2026Article
- IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.Nature communications · 2026Article
- Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.Blood advances · 2026Article
- Clinical and immunological differentiation of isolated IgG and combined IgG & IgM deficiencies from common variable immunodeficiency.Frontiers in immunology · 2026Article
- Genes causative of primary immunodeficiency are risk factors for and are over-expressed in systemic lupus erythematosus.Frontiers in immunology · 2026Article
- Deletion of Ptpn2 in B cells promotes autoimmunity via TLR and JAK/STAT signaling.JCI insight · 2025Article
- Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.NPJ genomic medicine · 2025Article
- In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.EMBO molecular medicine · 2025Article
- Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations.Journal of clinical immunology · 2025Article
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Comprehensive assessment of whole-genome sequencing-based variant calling pipelines in monozygotic twins.Briefings in bioinformatics · 2025Article
- In Silico Analysis of MiRNA Regulatory Networks to Identify Potential Biomarkers for the Clinical Course of Viral Infections.International journal of molecular sciences · 2025Article
74 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
60 authors at 20 institutions in 17 countries.
James E D Thaventhiran *Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK. jedt2@cam.ac.uk.ORCID http://orcid.org/0000-0001-8616-074X
Hana Lango Allen *Department of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.ORCID http://orcid.org/0000-0002-7803-8688
Oliver S Burren *Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.
William Rae *Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.
Daniel GreeneDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Emily StaplesDepartment of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Zinan ZhangCambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.
James H R FarmeryMedical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK.
Ilenia SimeoniDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Elizabeth RiversUCL Great Ormond Street Institute of Child Health, London, UK.
Jesmeen MaimarisUCL Great Ormond Street Institute of Child Health, London, UK.
Christopher J PenkettDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.ORCID http://orcid.org/0000-0003-4006-7261
Jonathan StephensDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Sri V V DeeviDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.ORCID http://orcid.org/0000-0002-0405-4335
Alba Sanchis-JuanDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Nicholas S GleadallDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Moira J ThomasDepartment of Immunology, Queen Elizabeth University Hospital, Glasgow, UK.
Ravishankar B SargurSheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.
Pavels GordinsEast Yorkshire Regional Adult Immunology and Allergy Unit, Hull Royal Infirmary, Hull and East Yorkshire Hospitals NHS Trust, Hull, UK.
Helen E BaxendaleCambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.
Matthew BrownDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Paul TuijnenburgDepartment of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam, The Netherlands.
Austen WorthUCL Great Ormond Street Institute of Child Health, London, UK.
Steven HansonInstitute of Immunity and Transplantation, University College London, London, UK.
Rachel J LingerNIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.
Matthew S BucklandInstitute of Immunity and Transplantation, University College London, London, UK.ORCID http://orcid.org/0000-0002-5646-4707
Paula J Rayner-MatthewsDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Kimberly C GilmourUCL Great Ormond Street Institute of Child Health, London, UK.
Crina SamarghiteanDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Suranjith L SeneviratneInstitute of Immunity and Transplantation, University College London, London, UK.
David M SansomInstitute of Immunity and Transplantation, University College London, London, UK.
Andy G LynchCancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre, Cambridge, UK.ORCID http://orcid.org/0000-0002-7876-7338
Karyn MegyDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.ORCID http://orcid.org/0000-0002-2826-3879
Eva EllinghausK.G. Jebsen Inflammation Research Centre, Institute of Clinical Medicine, University of Oslo, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0003-2914-3382
David EllinghausDepartment of Transplantation, Institute of Clinical Medicine, University of Oslo, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-4332-6110
Silje F JorgensenSection of Clinical Immunology and Infectious Diseases, Department of Rheumatology, Dermatology and Infectious Diseases, Oslo University Hospital, Oslo, Norway.
Tom H KarlsenK.G. Jebsen Inflammation Research Centre, Institute of Clinical Medicine, University of Oslo, Oslo University Hospital, Oslo, Norway.
Kathleen E StirrupsDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.ORCID http://orcid.org/0000-0002-6823-3252
Antony J CutlerJDRF/Wellcome Diabetes and Inflammation Laboratory, Wellcome Centre for Human Genetics, Nuffield Department of Medicine, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Dinakantha S KumararatneDepartment of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
Anita ChandraCambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.
J David M EdgarSt James's Hospital, Dublin, Ireland.
Archana HerwadkarSalford Royal NHS Foundation Trust, Salford, UK.
Nichola CooperDepartment of Medicine, Imperial College London, London, UK.
Sofia GrigoriadouBarts Health NHS Foundation Trust, London, UK.
Aarnoud P HuissoonWest Midlands Immunodeficiency Centre, University Hospitals Birmingham, Birmingham, UK.
Sarah GoddardUniversity Hospitals of North Midlands NHS Trust, Stoke-on-Trent, UK.
Stephen JollesImmunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, UK.
Catharina SchuetzDepartment of Pediatric Immunology, University Hospital Carl Gustav Carus, Dresden, Germany.
Felix BoschannInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.ORCID http://orcid.org/0000-0001-9410-9290
Primary Immunodeficiency Consortium for the NIHR Bioresource
Paul A LyonsCambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.ORCID http://orcid.org/0000-0001-7035-8997
Matthew E HurlesDepartment of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
Sinisa SavicDepartment of Clinical Immunology and Allergy, St James's University Hospital, Leeds, UK.ORCID http://orcid.org/0000-0001-7910-0554
Siobhan O BurnsInstitute of Immunity and Transplantation, University College London, London, UK.
Taco W KuijpersDepartment of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam, The Netherlands.
Ernest TurroDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.ORCID http://orcid.org/0000-0002-1820-6563
Willem H OuwehandDepartment of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.ORCID http://orcid.org/0000-0002-7744-1790
Adrian J ThrasherUCL Great Ormond Street Institute of Child Health, London, UK.ORCID http://orcid.org/0000-0002-6097-6115
Kenneth G C SmithCambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK. kgcs2@cam.ac.uk.
University of Cambridge · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBCambridge University Hospitals NHS Foundation Trust · GBImperial College London · GBBarts Health NHS Trust · GBNHS Blood and Transplant · GBRoyal Free London NHS Foundation Trust · GBUniversity College London · GBImperial College Healthcare NHS Trust · GBKing's College London · GBNewcastle University · GBUniversity of Oxford · GBGreat Ormond Street Hospital · GBNHS Greater Glasgow and Clyde · GBOxford University Hospitals NHS Trust · GBUniversity Hospitals Birmingham NHS Foundation Trust · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GBOslo University Hospital · NOSt Thomas' Hospital · GBUniversity College London Hospitals NHS Foundation Trust · GB
Funding
British Heart Foundation CH/1992001/6764British Heart Foundation FS/18/53/33863British Heart Foundation SP/12/12/29836Cancer Research UK 26988Cancer Research UK 27125Cancer Research UK 27723Cancer Research UK 28051Cancer Research UK 29034Department of Health RP-2016-07-019Medical Research Council G84/6443Medical Research Council MC_PC_18030Medical Research Council MC_UP_1102/20Medical Research Council MC_UU_00006/2Medical Research Council MC_UU_00016/15Medical Research Council MC_UU_12009/16Medical Research Council MC_UU_12015/2Medical Research Council MR/K020919/1Medical Research Council MR/K02342X/1Medical Research Council MR/L006197/1Medical Research Council MR/L006340/1Medical Research Council MR/L019027/1Medical Research Council MR/P02002X/1Medical Research Council MR/S001190/1Medical Research Council MR/S021329/1Wellcome Trust 091157Wellcome Trust 100140Wellcome Trust 104807Wellcome Trust 107212Wellcome Trust 201250Wellcome Trust 202747/Z/16/ZWellcome Trust 203141Wellcome Trust 204798/Z/16/Z
Abstract
Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent and up to 10% develop lymphoid malignancies
Indexed as
Whole Genome SequencingActin-Related Protein 2-3 ComplexBayes TheoremCohort StudiesFemaleGenome-Wide Association StudyHumansMalePrimary Immunodeficiency DiseasesProtein Tyrosine Phosphatase, Non-Receptor Type 2Regulatory Sequences, Nucleic AcidRNA-Binding ProteinsSuppressor of Cytokine Signaling 1 ProteinTranscription FactorsActin-Related Protein 2-3 ComplexARPC1A protein, humanARPC1B protein, humanIVNS1ABP protein, humanProtein Tyrosine Phosphatase, Non-Receptor Type 2PTPN2 protein, humanRNA-Binding ProteinsSOCS1 protein, humanSuppressor of Cytokine Signaling 1 ProteinTranscription Factors
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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.