ArticleThe Journal of allergy and clinical immunology2011
Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.
Article in The Journal of allergy and clinical immunology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 27 citations in OpenAlex.
- Vaccine Responses in Early Age.Vaccines · 2026Review
- State of pneumococcal vaccine immunity.Human vaccines & immunotherapeutics · 2024Article
- Transmembrane Activator and CAML Interactor (TACI): Another Potential Target for Immunotherapy of Multiple Myeloma?Cancers · 2020Review
- Lack of Gut Secretory Immunoglobulin A in Memory B-Cell Dysfunction-Associated Disorders: A Possible Gut-Spleen Axis.Frontiers in immunology · 2019Article
- Novel Heterozygous Mutation inFrontiers in pediatrics · 2019Article
- TACI Isoforms Regulate Ligand Binding and Receptor Function.Frontiers in immunology · 2018Article
- The Role of BAFF System Molecules in Host Response to Pathogens.Clinical microbiology reviews · 2017Review
- 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
- 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
- Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.American journal of human genetics · 2015Article
- Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases · 2014Review
- CVID-associated TACI mutations affect autoreactive B cell selection and activation.The Journal of clinical investigation · 2013Article
- TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes.The Journal of allergy and clinical immunology · 2013Article
- Advances in basic and clinical immunology in 2011.The Journal of allergy and clinical immunology · 2012Review
- Article
- Common variable immunodeficiency.American journal of rhinology & allergyArticle
- Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.The journal of allergy and clinical immunology. In practiceArticle
Corrections and comments
- Erratum issuedCorrigendum.2026
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundHeterozygous deleterious mutations in the gene encoding the tumor necrosis factor receptor superfamily member 13b (TNFRSF13B), or transmembrane activator and CAML interactor (TACI), have been associated with the development of common variable immunodeficiency. Smith-Magenis syndrome (SMS) is a genetic disorder characterized by developmental delay, behavioral disturbances, craniofacial anomalies, and recurrent respiratory tract infections. Eighty percent of subjects have a chromosome 17p11.2 microdeletion, which includes TACI. The remaining subjects have mutations sparing this gene.
objectiveWe examined TACI protein expression and function in patients with SMS to define the role of TACI haploinsufficiency in B-cell function.
methodsWe studied TACI expression and function in a cohort of 29 patients with SMS.
resultsIn patients with SMS with only 1 TACI allele, we found decreased B-cell extracellular and intracellular expression of TACI, reduced binding of a proliferation-inducing ligand, and decreased TACI-induced expression of activation-induced cytidine deaminase mRNA, but these were normal for cells from patients with SMS and 2 TACI alleles. Impaired upregulation of B-cell surface TACI expression by a Toll-like receptor 9 agonist was also observed in cells from patients with 1 TACI allele. Gene sequence analysis of the remaining TACI allele revealed common polymorphisms, with the exception of 1 patient with an amino acid change of uncertain significance. Patients with SMS with the lowest TACI expression had significantly reduced antibody responses to pneumococcal vaccine serotypes. DISCUSSION: Our findings suggest that haploinsufficiency of the TACI gene results in humoral immune dysfunction, highlighting the role of genomic copy number variants in complex traits.
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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.