ArticleJournal of immunology research2016
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.
Article in Journal of immunology research, 2016. 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, 41 citations in OpenAlex.
- Mycobacterium shinjukuense pulmonary disease in a young woman: a case report and literature review.BMC infectious diseases · 2026Review
- Mapping rare protein-coding variants on multi-organ imaging traits.Nature communications · 2025Article
- Re-evaluation of the contribution ofJournal of human immunity · 2025Article
- Genomic profiling at a single center cracks the code in inborn errors of immunity.Internal and emergency medicine · 2025Article
- Monogenic Common Variable Immunodeficiency (Mo-CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort.European journal of immunology · 2025Article
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- Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.Nature communications · 2023Article
- Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study.Frontiers in neurology · 2023Article
- Case report: Invasive fungal infection in a patient with a rare CVID-causing gene (Frontiers in oncology · 2023Article
- Immunogenicity of Anti-SARS-CoV-2 Vaccines in Common Variable Immunodeficiency.Journal of clinical immunology · 2022Article
- Selective IgA Deficiency and Allergy: A Fresh Look to an Old Story.Medicina (Kaunas, Lithuania) · 2022Review
- SARS-CoV-2 Vaccine Induced Atypical Immune Responses in Antibody Defects: Everybody Does their Best.Journal of clinical immunology · 2021Article
- TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece.Medicina (Kaunas, Lithuania) · 2021Article
- TNFRSF13B polymorphisms counter microbial adaptation to enteric IgA.JCI insight · 2021Article
- Immune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration.Immunity, inflammation and disease · 2021Article
- The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).Scientific reports · 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
- Innate Mechanisms in Selective IgA Deficiency.Frontiers in immunology · 2021Review
- B Cell Dysregulation in Common Variable Immunodeficiency Interstitial Lung Disease.Frontiers in immunology · 2020Review
- Rare TACI Mutation in a 3-Year-Old Boy With CVID Phenotype.Frontiers in pediatrics · 2019Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We assessed the prevalence of TNFRSF13B mutations and the clinical correlates in an Italian cohort of 189 CVID, 67 IgAD patients, and 330 healthy controls to substantiate the role of TACI genetic testing in diagnostic workup. We found that 11% of CVID and 13% of IgAD carried at least one mutated TNFRSF13B allele. Seven per cent of CVID had monoallelic-mutations and 4% had biallelic-mutations. The frequency of C104R monoallelic-mutations was not higher than that found in healthy controls. Biallelic-mutations were exclusively found in CVID. CVID patients carrying monoallelic-mutations had an increased prevalence of lymphadenopathy, granulomata, and autoimmune cytopenias. CVID carrying biallelic-mutations had a low prevalence of autoimmunity in comparison with TACI wild-type CVID. Moreover, biallelic-mutated CVID had higher frequency of switched memory B-cells and higher IgM and IgA antibodies to polysaccharide antigens than TACI wild-type and monoallelic-mutated CVID. TACI-mutated IgAD patients had only monoallelic-mutations and did not display clinical difference from IgAD wild-type patients. In conclusion, TNFRSF13B genetic screening of antibody deficiencies may allow the identification of mutational patterns. However, as with counseling for risk assessment, geneticists should be aware that the interpretation of genetic testing for TACI mutations is difficult and the potential impact on clinical management is still limited.
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