ArticleThe Journal of allergy and clinical immunology2013
TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes.
Article in The Journal of allergy and clinical immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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52 citing papers in PubMed, 95 citations in OpenAlex.
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- Evolution of Anti-B Cell Therapeutics in Autoimmune Neurological Diseases.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Review
- Multi-omics analysis of naïve B cells of patients harboring the C104R mutation in TACI.Frontiers in immunology · 2022Article
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- TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece.Medicina (Kaunas, Lithuania) · 2021Article
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
Abstract
backgroundMutations in the gene coding for the transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) are found in 8% to 10% of subjects with common variable immunodeficiency (CVID). Although heterozygous mutations may coincide with immunodeficiency in a few families, most mutation-bearing relatives are not hypogammaglobulinemic. Thus, the role of TACI mutations in producing the immune defect remains unclear.
objectiveThis study examined the expression and function of TACI mutations in healthy heterozygous relatives.
methodsWe examined the surface and intracellular expression of TACI protein in EBV-transformed B cells of patients and relatives with mutations in 7 families, binding of a proliferation-inducing ligand, and secretion of IgG and IgA by ligand-activated B cells. We tested whether Toll-like receptor 9 agonists increased TACI expression and whether an agonistic anti-TACI antibody could induce activation-induced cytidine deaminase mRNA in those with mutations.
resultsIntracellular and extracellular TACI expression was defective for B cells of all subjects with mutations, including subjects with CVID and relatives. Although Toll-like receptor 9 triggering normally up-regulates B-cell TACI expression, this was defective for all subjects with mutations. Triggering TACI by an agonistic antibody showed loss of activation-induced cytidine deaminase mRNA induction in all mutation-bearing B cells. However, ligand-induced IgG and IgA production was normal for healthy relatives but not for subjects with CVID.
conclusionThus, B cells of relatives of subjects with CVID who have mutations in TACI but normal immune globulin levels still have detectable in vitro B-cell defects.
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