Evidence map›Paper›PMID 35365635›Full record

ArticleNature communications2022

Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses.

Javier Rodríguez-Ubreva, Anna Arutyunyan, Marc Jan Bonder, Lucía Del Pino-Molina, Stephen J Clark, Carlos de la Calle-Fabregat, Luz Garcia-Alonso, Louis-François Handfield, Laura Ciudad, Eduardo Andrés-León and 17 more

Open access · goldAbstract readTwin Study
In one paragraph

Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
4.2field-weighted citation impact, top 5% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

27 citing papers in PubMed, 49 citations in OpenAlex.

  1. RNA mActa pharmacologica Sinica · 2026
    Review
  2. Article
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  7. Common variable immunodeficiency: autoimmune cytopenias and advances in molecular diagnosis.Hematology. American Society of Hematology. Education Program · 2024
    Review
  8. Article
  9. Article
  10. Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2024
    Review
  11. The Horse with Recurrent Fevers and Infections: Approach to Common Variable Immunodeficiency.The Veterinary clinics of North America. Equine practice · 2024
    Review
  12. Article
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  15. Immune Homeostasis: A Novel Example of Teamwork.Methods in molecular biology (Clifton, N.J.) · 2024
    Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors at 11 institutions in 4 countries.

Javier Rodríguez-Ubreva *Epigenetics and Immune Disease Group, Josep Carreras Research Institute (IJC), Badalona, Barcelona, Spain. jrodriguez@carrerasresearch.org.ORCID http://orcid.org/0000-0003-4707-4536
Anna Arutyunyan *Cellular Genetics Department, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Marc Jan BonderEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridgeshire, UK.
Lucía Del Pino-MolinaClinical Immunology Department, La Paz University Hospital and Lymphocyte Pathophysiology in Immunodeficiencies Group, La Paz Institute for Health Research (IdiPAZ), Center for Biomedical Network Research on Rare Diseases (CIBERER U767), Madrid, Spain.ORCID http://orcid.org/0000-0003-2392-097X
Stephen J ClarkEpigenetics Programme, Babraham Institute, Cambridge, UK.ORCID http://orcid.org/0000-0002-6183-491X
Carlos de la Calle-FabregatEpigenetics and Immune Disease Group, Josep Carreras Research Institute (IJC), Badalona, Barcelona, Spain.
Luz Garcia-AlonsoCellular Genetics Department, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Louis-François HandfieldCellular Genetics Department, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Laura CiudadEpigenetics and Immune Disease Group, Josep Carreras Research Institute (IJC), Badalona, Barcelona, Spain.
Eduardo Andrés-LeónInstituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas (IPBLN-CSIC), Granada, Spain.ORCID http://orcid.org/0000-0002-0621-9914
Felix KruegerBioinformatics Unit, Babraham Institute, Cambridge, UK.ORCID http://orcid.org/0000-0002-5513-3324
Francesc Català-MollEpigenetics and Immune Disease Group, Josep Carreras Research Institute (IJC), Badalona, Barcelona, Spain.
Virginia C Rodríguez-CortezChromatin and Disease Group, Cancer Epigenetics and Biology Programme (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Krzysztof PolanskiCellular Genetics Department, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Lira MamanovaCellular Genetics Department, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Stijn van DongenCellular Genetics Department, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Vladimir Yu KiselevCellular Genetics Department, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
María T Martínez-SaavedraDepartment of Immunology, Hospital Universitario de Gran Canaria Dr Negrín, Las Palmas de Gran Canaria, Spain.ORCID http://orcid.org/0000-0001-8579-226X
Holger HeynCNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.ORCID http://orcid.org/0000-0002-3276-1889
Javier MartínInstituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas (IPBLN-CSIC), Granada, Spain.
Klaus WarnatzFaculty of Medicine, Department of Rheumatology and Clinical Immunology, Medical Center, University of Freiburg, Freiburg, Germany.ORCID http://orcid.org/0000-0002-1172-865X
Eduardo López-GranadosClinical Immunology Department, La Paz University Hospital and Lymphocyte Pathophysiology in Immunodeficiencies Group, La Paz Institute for Health Research (IdiPAZ), Center for Biomedical Network Research on Rare Diseases (CIBERER U767), Madrid, Spain.
Carlos Rodríguez-GallegoDepartment of Immunology, Hospital Universitario de Gran Canaria Dr Negrín, Las Palmas de Gran Canaria, Spain.ORCID http://orcid.org/0000-0002-4344-8644
Oliver StegleEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridgeshire, UK.ORCID http://orcid.org/0000-0002-8818-7193
Gavin KelseyCentre for Trophoblast Research, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-9762-5634
Roser Vento-TormoCellular Genetics Department, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. rv4@sanger.ac.uk.ORCID http://orcid.org/0000-0002-9870-8474
Esteban BallestarEpigenetics and Immune Disease Group, Josep Carreras Research Institute (IJC), Badalona, Barcelona, Spain. eballestar@carrerasresearch.org.ORCID http://orcid.org/0000-0002-1400-2440
Institut d'Investigació Biomédica de Bellvitge · ESWellcome Sanger Institute · GBBabraham Institute · GBConsejo Superior de Investigaciones Científicas · ESEuropean Bioinformatics Institute · GBHospital La Paz Institute for Health Research · ESUniversity of Cambridge · GBHospital Universitario de Gran Canaria Doctor Negrín · ESUniversidad Fernando Pessoa Canarias · ESUniversitat Pompeu Fabra · ESUniversity of Freiburg · DE

Funding

Biotechnology and Biological Sciences Research Council BBS/E/B/000C0426Medical Research Council MR/S000437/1Wellcome TrustWellcome Trust WT206194
6 · The paper itself

Abstract

Common variable immunodeficiency (CVID), the most prevalent symptomatic primary immunodeficiency, displays impaired terminal B-cell differentiation and defective antibody responses. Incomplete genetic penetrance and ample phenotypic expressivity in CVID suggest the participation of additional pathogenic mechanisms. Monozygotic (MZ) twins discordant for CVID are uniquely valuable for studying the contribution of epigenetics to the disease. Here, we generate a single-cell epigenomics and transcriptomics census of naïve-to-memory B cell differentiation in a CVID-discordant MZ twin pair. Our analysis identifies DNA methylation, chromatin accessibility and transcriptional defects in memory B-cells mirroring defective cell-cell communication upon activation. These findings are validated in a cohort of CVID patients and healthy donors. Our findings provide a comprehensive multi-omics map of alterations in naïve-to-memory B-cell transition in CVID and indicate links between the epigenome and immune cell cross-talk. Our resource, publicly available at the Human Cell Atlas, gives insight into future diagnosis and treatments of CVID patients.

Indexed as

Common Variable ImmunodeficiencyB-LymphocytesEpigenesis, GeneticEpigenomicsGerminal CenterHumans

Identifiers

PMID35365635
PMCPMC8975885
OpenAlexW4220964532

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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.