ArticleThe Journal of allergy and clinical immunology2015
TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development.
Article in The Journal of allergy and clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 37 citations in OpenAlex.
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- Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (Frontiers in oncology · 2023Article
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- 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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- Common variable immune deficiency: case studies.Hematology. American Society of Hematology. Education Program · 2019Article
- Common variable immune deficiency: case studies.Blood · 2019Review
- Primary B-cell immunodeficiencies.Human immunology · 2019Review
- Common variable immune deficiency: Dissection of the variable.Immunological reviews · 2019Review
- Disentangling Immediate Adaptive Introgression from Selection on Standing Introgressed Variation in Humans.Molecular biology and evolution · 2018Article
- Common Variable Immunodeficiency and Gastric Malignancies.International journal of molecular sciences · 2018Review
- CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID.Frontiers in immunology · 2018Article
- TACI Isoforms Regulate Ligand Binding and Receptor Function.Frontiers in immunology · 2018Article
- Advances in clinical immunology in 2015.The Journal of allergy and clinical immunology · 2016Review
- Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.Journal of immunology research · 2016Article
- Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.American journal of human genetics · 2015Article
- Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.The journal of allergy and clinical immunology. In practiceArticle
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundHeterozygous C104R or A181E TNF receptor superfamily member 13b (TNFRSF13B) mutations impair removal of autoreactive B cells, weaken B-cell activation, and convey to patients with common variable immune deficiency (CVID) an increased risk for autoimmunity. How mutant transmembrane activator and CAML interactor (TACI) influences wild-type TACI function is unclear; different models suggest either a dominant negative effect or haploinsufficiency.
objectiveWe investigated potential TACI haploinsufficiency by analyzing patients with antibody-deficient Smith-Magenis syndrome (SMS) who possess only 1 TNFRSF13B allele and antibody-deficient patients carrying one c.204insA TNFRSF13B null mutation.
methodsWe tested the reactivity of antibodies isolated from single B cells from patients with SMS and patients with a c.204insA TNFRSF13B mutation and compared them with counterparts from patients with CVID with heterozygous C104R or A181E TNFRSF13B missense mutations. We also assessed whether loss of a TNFRSF13B allele induced haploinsufficiency in naive and memory B cells and recapitulated abnormal immunologic features typical of patients with CVID with heterozygous TNFRSF13B missense mutations.
resultsWe found that loss of a TNFRSF13B allele does not affect TACI expression, activation responses, or establishment of central B-cell tolerance in naive B cells. Additionally, patients with SMS and those with a c.204insA TNFRSF13B mutation display normal regulatory T-cell function and peripheral B-cell tolerance. The lack of a TNFRSF13B allele did result in decreased TACI expression on memory B cells, resulting in impaired activation and antibody secretion.
conclusionTNFRSF13B hemizygosity does not recapitulate autoimmune features of CVID-associated C104R and A181E TNFRSF13B mutations, which likely encode dominant negative products, but instead reveals selective TACI haploinsufficiency at later stages of B-cell development.
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