ArticleFrontiers in immunology2018
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
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Article in Frontiers in immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
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98citing papers in PubMed, 2 pooled it
7.5field-weighted citation impact, top 2% of its field
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Who cites it
98 citing papers in PubMed, 2 syntheses or guidelines pooled it, 153 citations in OpenAlex.
- Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.Frontiers in immunology · 2021Pooled it
- Global Distribution of Common Variable Immunodeficiency (CVID) in the Light of the UNDP Human Development Index (HDI): A Preliminary Perspective of a Rare Disease.Journal of immunology research · 2020Pooled it
- Common variable immunodeficiency-associated endotoxemia promotes early commitment to the T follicular lineage.The Journal of allergy and clinical immunology · 2019Trial
- Non-parametric Heat Map Representation of Flow Cytometry Data: Identifying Cellular Changes Associated With Genetic Immunodeficiency Disorders.Frontiers in immunology · 2019Trial
- Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients.Journal of human immunity · 2026Article
- Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.International journal of molecular sciences · 2026Article
- Deciphering the molecular landscape of Sjögren's disease, mucosa-associated lymphoid tissue lymphoma, and thyroid cancer: unraveling the complexities of disease mechanisms and diagnostic biomarkers.Clinical rheumatology · 2026Article
- Association between gut microbiota-derived TMAO, systemic inflammatory markers, and echocardiographic findings in patients with common variable immunodeficiency.BMC immunology · 2026Article
- Review
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Antibody Secretion Capacity in CVID Patients: Immunoglobulin Isotypes and Antigen Specificities After T-Cell-Dependent In Vitro Stimulation.Journal of clinical medicine · 2025Article
- Gastrointestinal Manifestations of Common Variable Immunodeficiency: A Mentored Review.Digestive diseases and sciences · 2025Review
- Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework.The Journal of allergy and clinical immunology · 2025Article
- Monogenic Common Variable Immunodeficiency (Mo-CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort.European journal of immunology · 2025Article
- Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.Developmental neuroscience · 2025Article
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.Frontiers in immunology · 2025Article
- Maintenance of X chromosome inactivation after T cell activation requires NF-κB signaling.Science immunology · 2024Article
- Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2024Review
- Exploring gastric cancer genetics: A turning point in common variable immunodeficiency.The journal of allergy and clinical immunology. Global · 2024Article
38 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
27 authors at 10 institutions in 1 country.
Guillem de Valles-IbáñezInstitut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.
Ana Esteve-SoléAllergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain.
Mònica PiquerAllergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain.
E Azucena González-NavarroFunctional Unit of Clinical Immunology Hospital Sant Joan de Déu-Hospital Clinic, Barcelona, Spain.
Jessica Hernandez-RodriguezInstitut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.
Hafid LaayouniInstitut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.
Eva González-RocaFunctional Unit of Clinical Immunology Hospital Sant Joan de Déu-Hospital Clinic, Barcelona, Spain.
Ana María Plaza-MartinAllergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain.
Ángela Deyà-MartínezAllergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain.
Andrea Martín-NaldaPediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
Mónica Martínez-GalloJeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.
Marina García-PratPediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
Lucía Del Pino-MolinaClinical Immunology Department, University Hospital La Paz and Physiopathology of Lymphocytes in Immunodeficiencies Group, IdiPAZ Institute for Health Research, Madrid, Spain.
Ivón CuscóDepartment of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain.
Marta Codina-SolàDepartment of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain.
Laura Batlle-MasóInstitut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.
Manuel Solís-MorunoInstitut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.
Tomàs Marquès-BonetInstitut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.
Elena BoschInstitut de Biologia Evolutiva (UPF-CSIC), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.
Eduardo López-GranadosClinical Immunology Department, University Hospital La Paz and Physiopathology of Lymphocytes in Immunodeficiencies Group, IdiPAZ Institute for Health Research, Madrid, Spain.
Juan Ignacio ArósteguiFunctional Unit of Clinical Immunology Hospital Sant Joan de Déu-Hospital Clinic, Barcelona, Spain.
Pere Soler-PalacínPediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
Roger ColobranJeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.
Jordi YagüeFunctional Unit of Clinical Immunology Hospital Sant Joan de Déu-Hospital Clinic, Barcelona, Spain.
Laia AlsinaAllergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain.
Manel JuanFunctional Unit of Clinical Immunology Hospital Sant Joan de Déu-Hospital Clinic, Barcelona, Spain.
Ferran CasalsServei de Genòmica, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.
Hospital Sant Joan de Déu Barcelona · ESPompeu Fabra University · ESBarcelona Biomedical Research Park · ESVall d'Hebron Institut de Recerca · ESConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESHospital Clínic de Barcelona · ESHospital La Paz Institute for Health Research · ESInstitut de Biologia Evolutiva · ESUniversitat Autònoma de Barcelona · ESCentre for Biomedical Network Research on Rare Diseases · ES
Funding
2/2 Somatic mosaicism and autism spectrum disorderU01MH106874 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2015 to 2019
$4.0MHoward Hughes Medical InstituteNIMH NIH HHS U01 MH106874
Abstract
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. Currently, less than 20% of cases of CVID have a known underlying genetic cause. We have analyzed whole-exome sequencing and copy number variants data of 36 children and adolescents diagnosed with CVID and healthy relatives to estimate the proportion of monogenic cases. We have replicated an association of CVID to p.C104R in TNFRSF13B and reported the second case of homozygous patient to date. Our results also identify five causative genetic variants in
Indexed as
GenotypeAdolescentCells, CulturedChildChild, PreschoolCohort StudiesCommon Variable ImmunodeficiencyCTLA-4 AntigenExome SequencingGenetic Association StudiesGenetic Predisposition to DiseaseHumansLeukocytes, MononuclearLymphocyte ActivationModels, BiologicalMutationCTLA-4 AntigenCTLA4 protein, humanTNFRSF13B protein, humanTransmembrane Activator and CAML Interactor Proteincommon variable immunodeficiencyexome sequencingloss-of-functionprimary immunodeficiencyrare disease genetics
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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.