ArticleJournal of clinical immunology2009
Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency.
Article in Journal of clinical immunology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 57 citations in OpenAlex.
- Re-evaluation of the contribution ofJournal of human immunity · 2025Article
- Clinical Characteristics and Outcomes of Pediatric Cases Presenting with Possible Pulmonary Vasculitis Following COVID-19 Infection.Journal of clinical immunology · 2025Article
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia.Case reports in genetics · 2025Article
- TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.Frontiers in medicine · 2025Article
- The Scope and Impact of Viral Infections in Common Variable Immunodeficiency (CVID) and CVID-like Disorders: A Literature Review.Journal of clinical medicine · 2024Review
- Novel heterozygous mutations ofBlood science (Baltimore, Md.) · 2024Article
- Genetic characteristics of common variable immunodeficiency patients with autoimmunity.Frontiers in genetics · 2023Article
- 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
- Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases).Current allergy and asthma reports · 2018Review
- Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.Journal of immunology research · 2016Article
- TACI deficiency enhances antibody avidity and clearance of an intestinal pathogen.The Journal of clinical investigation · 2014Article
- Naturally occurring mutation affecting the MyD88-binding site of TNFRSF13B impairs triggering of class switch recombination.European journal of immunology · 2013Article
- Clinical variability of family members with the C104R mutation in transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI).Journal of clinical immunology · 2013Article
- Heterozygous alterations of TNFRSF13B/TACI in tonsillar hypertrophy and sarcoidosis.Clinical & developmental immunology · 2013Article
- Three different classifications, B lymphocyte subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms in Turkish patients with common variable immunodeficiency.Journal of clinical immunology · 2012Article
- Immunological characteristics and two novel mutations in TACI in a cohort of 28 pediatric patients with common variable immunodeficiency.Journal of clinical immunology · 2012Article
- A girl with autoimmune cytopenias, nonmalignant lymphadenopathy, and recurrent infections.Case reports in immunology · 2012Article
- Rare mutations in TNFRSF13B increase the risk of asthma symptoms in Swedish children.Genes and immunity · 2012Article
- Innate immune defects correlate with failure of antibody responses to H1N1/09 vaccine in HIV-infected patients.The Journal of allergy and clinical immunology · 2011Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionCommon variable immunodeficiency (CVID) is a heterogeneous syndrome characterized by impaired immunoglobulin production. The disorder is also characterized by co-occurrence of autoimmune, lymphoproliferative, and granulomatous diseases. Mutations in the gene encoding TACI (Transmembrane Activator and CAML Interactor, TNFRSF13B) were previously found to be associated with CVID. MATERIALS AND
methodsWe therefore sequenced TNFRSF13B gene in a cohort of 48 Iranian CVID patients. Expression of TACI and binding of A proliferation-inducing ligand (APRIL) were tested by FACS.
resultsWe identified one patient with a homozygous G to T substitution in the TNFRSF13B gene at the splice site of intron 1 (c.61+1G>T), which abolished expression of the TACI molecule and binding capacity of APRIL. This represents the second CVID patient in the world with a complete absence of TACI expression. B cell lines from family members carrying the same mutation in a heterozygous form showed a reduced level of TACI expression and APRIL-binding capacity, suggesting a gene dosage effect. In addition, we found the previously recognized C104R and C172Y mutations in a heterozygous form in two patients with CVID and one, novel, heterozygous P42T mutation.
conclusionTACI mutations were observed in Iran CVID patients in a similar frequency as in other Caucasian populations. The novel mutations identified in this study support the notion of a crucial role for TACI in B cell differentiation.
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