ArticleThe Journal of clinical investigation2010
CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency.
Article in The Journal of clinical investigation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 162 papers.
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Who cites it
162 citing papers in PubMed, 385 citations in OpenAlex.
- Common variable immunodeficiency-associated endotoxemia promotes early commitment to the T follicular lineage.The Journal of allergy and clinical immunology · 2019Trial
- Navigating primary and secondary immunodeficiency intersections: how to find IEI hidden within SID.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026Review
- Surface CD81 supports leukemia stem cell function and reveals a therapeutic vulnerability in acute myeloid leukemia.Signal transduction and targeted therapy · 2026Article
- Research progress on resistance mechanisms to CAR-T cell therapy in diffuse large B-cell lymphoma.Frontiers in oncology · 2026Review
- Review
- Protection from malaria infection using liver-targeted siRNA.Molecular therapy. Methods & clinical development · 2025Article
- A Broad Spectrum of Liver Manifestations in Common Variable Immunodeficiency Syndrome-Two Case Reports and a Literature Overview.Diagnostics (Basel, Switzerland) · 2025Article
- Tetraspanins affect membrane structures and the trafficking of molecular partners: what impact on extracellular vesicles?Biochemical Society transactions · 2025Review
- CXCR4 Inhibition Enhances the Efficacy of CD19 Monoclonal Antibody-Mediated Extermination of B-Cell Lymphoma.International journal of molecular sciences · 2025Article
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency.Frontiers in immunology · 2025Article
- Revealing disease subtypes and heterogeneity in common variable immunodeficiency through transcriptomic analysis.Scientific reports · 2024Article
- Snorkel-tag based affinity chromatography for recombinant extracellular vesicle purification.Journal of extracellular vesicles · 2024Article
- Tetraspanin 3 promotes NSCLC cell proliferation via regulation of β1 integrin intracellular recycling.Cellular & molecular biology letters · 2024Article
- Tetraspanins: structure, dynamics, and principles of partner-protein recognition.Trends in cell biology · 2024Review
- Inborn errors of immunity with kidney and urinary tract disorders: a review.International urology and nephrology · 2024Review
- The Evolving Landscape of Flowcytometric Minimal Residual Disease Monitoring in B-Cell Precursor Acute Lymphoblastic Leukemia.International journal of molecular sciences · 2024Review
- Clinical and experimental treatment of primary humoral immunodeficiencies.Clinical and experimental immunology · 2024Review
- Membrane organization by tetraspanins and galectins shapes lymphocyte function.Nature reviews. Immunology · 2024Review
- CD19: a promising target for systemic sclerosis.Frontiers in immunology · 2024Review
102 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Antibody deficiencies constitute the largest group of symptomatic primary immunodeficiency diseases. In several patients, mutations in CD19 have been found to underlie disease, demonstrating the critical role for the protein encoded by this gene in antibody responses; CD19 functions in a complex with CD21, CD81, and CD225 to signal with the B cell receptor upon antigen recognition. We report here a patient with severe nephropathy and profound hypogammaglobulinemia. The immunodeficiency was characterized by decreased memory B cell numbers, impaired specific antibody responses, and an absence of CD19 expression on B cells. The patient had normal CD19 alleles but carried a homozygous CD81 mutation resulting in a complete lack of CD81 expression on blood leukocytes. Retroviral transduction and glycosylation experiments on EBV-transformed B cells from the patient revealed that CD19 membrane expression critically depended on CD81. Similar to CD19-deficient patients, CD81-deficient patients had B cells that showed impaired activation upon stimulation via the B cell antigen receptor but no overt T cell subset or function defects. In this study, we present what we believe to be the first antibody deficiency syndrome caused by a mutation in the CD81 gene and consequent disruption of the CD19 complex on B cells. These findings may contribute to unraveling the genetic basis of antibody deficiency syndromes and the nonredundant functions of CD81 in humans.
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Registered trials
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.