ArticleBlood2009
The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function.
Article in Blood, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 54 citations in OpenAlex.
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- Genome-wide association study indicates novel associations of annexin A13 to secretory and GAS2L2 with mucous otitis media.Scientific reports · 2024Article
- Delivering co-stimulatory tumor necrosis factor receptor agonism for cancer immunotherapy: past, current and future perspectives.Frontiers in immunology · 2023Review
- 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
- TNFRSF13B genotypes control immune-mediated pathology by regulating the functions of innate B cells.JCI insight · 2021Article
- TACI haploinsufficiency protects against BAFF-driven humoral autoimmunity in mice.European journal of immunology · 2021Article
- TNFRSF13B polymorphisms counter microbial adaptation to enteric IgA.JCI insight · 2021Article
- Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.Frontiers in immunology · 2021Observational
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- The five dimensions of B cell tolerance.Immunological reviews · 2019Review
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- TACI-Deficient Macrophages Protect Mice Against Metaflammation and Obesity-Induced Dysregulation of Glucose Homeostasis.Diabetes · 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
- Structural Basis and Functional Role of Intramembrane Trimerization of the Fas/CD95 Death Receptor.Molecular cell · 2016Article
- 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
- Article
- Myeloid glycosylation defects lead to a spontaneous common variable immunodeficiency-like condition with associated hemolytic anemia and antilymphocyte autoimmunity.Journal of immunology (Baltimore, Md. : 1950) · 2014Article
- Naturally occurring mutation affecting the MyD88-binding site of TNFRSF13B impairs triggering of class switch recombination.European journal of immunology · 2013Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
TNFRSF13B, which encodes TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor), is mutated in 10% of patients with common variable immune deficiency (CVID). One of the 2 most common TACI mutations in CVID, A181E, introduces a negative charge into the transmembrane domain. To define the consequence of the A181E mutation on TACI function, we studied the effect of its murine equivalent, mTACI A144E, on TACI signaling in transfected cells and on TACI function in transgenic mice. The mTACI A144E mutant, like its human TACI A181E counterpart, was expressed on the surface of 293T transfectants and was able to bind ligand, but exhibited impaired constitutive and ligand-induced NF kappaB signaling. In addition, constitutive and ligand-induced clustering of the intracellular domain was deficient for A144E as measured by fluorescence resonance energy transfer. Transgenic mice expressing the A144E mutant on TACI(-/-) background had low serum IgA levels and significantly impaired antibody responses to the type II T-independent antigen TNP-Ficoll. B cells from A144E transgenic mice were impaired in their capacity to proliferate and secrete IgG1 and IgA in response to TACI ligation. These results suggest that mTACI A144E mutation and its human counterpart, A181E, disrupt TACI signaling and impair TACI-dependent B-cell functions.
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