ArticleThe Journal of allergy and clinical immunology2010
The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency.
Article in The Journal of allergy and clinical immunology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 54 citations in OpenAlex.
- BAFF and APRIL Receptors in B Cell Immunity and Autoimmunity.Immunological reviews · 2026Review
- Re-evaluation of the contribution ofJournal of human immunity · 2025Article
- Genetics in a Danish Common Variable Immunodeficiency Cohort.Journal of clinical immunology · 2025Article
- Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.Pediatric research · 2024Article
- Analysis of rare genetic variants inFrontiers in genetics · 2024Article
- Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2023Article
- Case Report: ASCENIV use in three young children with immune abnormalities and acute respiratory failure secondary to RSV infection.Frontiers in immunology · 2023Article
- TNFRSF13B in B cell responses to organ transplantation.Human immunology · 2023Article
- Multi-omics analysis of naïve B cells of patients harboring the C104R mutation in TACI.Frontiers in immunology · 2022Article
- TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece.Medicina (Kaunas, Lithuania) · 2021Article
- TNFRSF13B polymorphisms counter microbial adaptation to enteric IgA.JCI insight · 2021Article
- TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.NPJ genomic medicine · 2021Article
- Article
- Transmembrane Activator and CAML Interactor (TACI): Another Potential Target for Immunotherapy of Multiple Myeloma?Cancers · 2020Review
- Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.Frontiers in immunology · 2019Article
- TACI Isoforms Regulate Ligand Binding and Receptor Function.Frontiers in immunology · 2018Article
- Heterozygosity for transmembrane activator and calcium modulator ligand interactor A144E causes haploinsufficiency and pneumococcal susceptibility in mice.The Journal of allergy and clinical immunology · 2017Article
- Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.Journal of immunology research · 2016Article
- TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development.The Journal of allergy and clinical immunology · 2015Article
- Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.Clinical immunology (Orlando, Fla.) · 2015Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundTNFRSF13B, which encodes transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), is mutated in 10% of patients with common variable immunodeficiency. One of the 2 most common TACI mutations in common variable immunodeficiency, C104R, abolishes ligand binding and is found predominantly in the heterozygous state. The murine TACI mutant C76R is the equivalent of the human TACI mutant C104R.
objectiveWe sought to define the consequence of the C76R mutation on TACI function in mice that express both wild-type TACI and the murine C76R mutant.
methodsTransgenic mice that express murine TACI C76R, the counterpart of human TACI C104R, on the TACI(+/-) B6/129 background (C76R/TACI(+/-) mice) were constructed. Serum immunoglobulins and antibody responses to the type II T-independent antigen trinitrophenylated (TNP)-Ficoll were determined by means of ELISA. B-cell proliferation in response to a proliferation-inducing ligand was determined based on tritiated thymidine incorporation into DNA. IgG1 secretion by B cells in response to a proliferation-inducing ligand plus IL-4 was determined by means of ELISA.
resultsC76R/TACI(+/-) mice had significantly impaired antibody responses to the type II T-independent antigen TNP-Ficoll compared with TACI(+/+) B6/129 control animals, and their B cells were impaired in their capacity to proliferate and secrete IgG1 in response to TACI ligation. Unexpectedly, TACI(+/-) mice had similarly impaired B-cell function as C76R/TACI(+/-) littermates. Impaired TACI function caused by haploinsufficiency was confirmed in TACI(+/-) mice on the C57BL/6 background.
conclusionThese results suggest that the human TACI mutant C104R might impair TACI function in heterozygotes through haploinsufficiency.
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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.