ArticleGenes and immunity2007
Novel mutations in a Japanese patient with CD19 deficiency.
Article in Genes and immunity, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 132 citations in OpenAlex.
- CD19 Deficiency Leads to Dysregulation of Phosphoinositide 3-Kinase-Protein Kinase B (Journal of clinical practice and research · 2025Article
- TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.Frontiers in medicine · 2025Article
- A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency.Frontiers in immunology · 2025Article
- miR-31-5p suppresses myocardial hypertrophy by targeting Nfatc2ip.Journal of cellular and molecular medicine · 2024Article
- Clinical and experimental treatment of primary humoral immunodeficiencies.Clinical and experimental immunology · 2024Review
- Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.Journal of clinical immunology · 2023Article
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- Novel CD81 Mutations in a Chinese Patient Led to IgA Nephropathy and Impaired BCR Signaling.Journal of clinical immunology · 2022Article
- B- and T-Cell Subset Abnormalities in Monogenic Common Variable Immunodeficiency.Frontiers in immunology · 2022Review
- Pathogenic and protective roles of B cells and antibodies in patients with chronic rhinosinusitis.The Journal of allergy and clinical immunology · 2018Review
- "Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology.Frontiers in immunology · 2018Review
- Reference values for B-cell surface markers and co-receptors associated with primary immune deficiencies in healthy Turkish children.International journal of immunopathology and pharmacology · 2017Article
- Combination of celecoxib (CelebrexAmerican journal of clinical and experimental immunology · 2017Review
- Article
- CD19 chimeric antigen receptor (CD19 CAR)-redirected adoptive T-cell immunotherapy for the treatment of relapsed or refractory B-cell Non-Hodgkin's Lymphomas.American journal of cancer research · 2016Review
- Unbalanced Immune System: Immunodeficiencies and Autoimmunity.Frontiers in pediatrics · 2016Review
- Common Variable Immunodeficiency and Circulating TFH.Journal of immunology research · 2016Article
- Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.Clinical immunology (Orlando, Fla.) · 2015Article
- IgH sequences in common variable immune deficiency reveal altered B cell development and selection.Science translational medicine · 2015Article
- Rare variants at 16p11.2 are associated with common variable immunodeficiency.The Journal of allergy and clinical immunology · 2015Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by recurrent bacterial infections, hypogammaglobulinemia and low to normal numbers of circulating B cells. Mutations in the ICOS, TACI and CD19 genes have recently been identified in <10% of CVID patients. We, herein, describe two novel CD19 gene disruptions in an 8-year-old Japanese boy, who had been clinically diagnosed as having CVID at the age of 5 years. Flow-cytometric analysis demonstrated absence of CD19 and reduced CD21 expression on CD20-postive peripheral blood B cells. Mutation analysis of CD19 revealed a mutation in the splice acceptor site of intron 5 (IVS5-1G>T) of the maternal allele, resulting in skipping of exon 6, and a truncated protein product. The paternal allele was disrupted by a gross deletion encompassing at least the ATP2A1, CD19 and NFATC2IP genes. The patient had a small number of IgD(-) CD27(+) memory B cells, in which somatic mutation were detected. His B cells showed substantial proliferation upon stimulation, but reduced IgG and IgA production in vitro. These findings extend the mutation spectrum of the CD19 deficiency to four, and confirm the homogeneity of the CD19 deficiency as a unique type of CVID.
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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.