ArticleJournal of clinical immunology2013
Clinical variability of family members with the C104R mutation in transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI).
Article in Journal of clinical immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 40 citations in OpenAlex.
- Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.International journal of molecular sciences · 2026Article
- Common Variable Immunodeficiency Disorders: A perspective from New Zealand.Clinical reviews in allergy & immunology · 2025Review
- Monogenic Common Variable Immunodeficiency (Mo-CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort.European journal of immunology · 2025Article
- Opinion: the evolving understanding of polygenic common variable immunodeficiency-like disorders.Frontiers in immunology · 2025Article
- Article
- Case Report: ASCENIV use in three young children with immune abnormalities and acute respiratory failure secondary to RSV infection.Frontiers in immunology · 2023Article
- Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.Clinical reviews in allergy & immunology · 2021Review
- TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.NPJ genomic medicine · 2021Article
- Are All Primary Immunodeficiency Disorders Inborn Errors of Immunity?Frontiers in immunology · 2021Article
- Perspective: Evolving Concepts in the Diagnosis and Understanding of Common Variable Immunodeficiency Disorders (CVID).Clinical reviews in allergy & immunology · 2020Review
- Screening for Genetic Mutations for the Early Diagnosis of Common Variable Immunodeficiency in Children With Refractory Immune Thrombocytopenia: A Retrospective Data Analysis From a Tertiary Children's Center.Frontiers in pediatrics · 2020Article
- The Natural History of Untreated Primary Hypogammaglobulinemia in Adults: Implications for the Diagnosis and Treatment of Common Variable Immunodeficiency Disorders (CVID).Frontiers in immunology · 2019Article
- Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing.Clinical reviews in allergy & immunology · 2018Review
- Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.Frontiers in immunology · 2018Article
- Epistatic interactions between mutations of TACI (Clinical & translational immunology · 2017Article
- Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders.Frontiers in immunology · 2017Article
- Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2016Article
- Profound Reversible Hypogammaglobulinemia Caused by Celiac Disease in the Absence of Protein Losing Enteropathy.Journal of clinical immunology · 2015Article
- TACI deficiency enhances antibody avidity and clearance of an intestinal pathogen.The Journal of clinical investigation · 2014Article
- Comparison of diagnostic criteria for common variable immunodeficiency disorder.Frontiers in immunology · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCommon Variable Immunodeficiency Disorder (CVID) is a complex disorder that predisposes patients to recurrent and severe infections. The C104R mutation in the transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) is the most frequent mutation identified in patients with CVID. We carried out a detailed immunological and molecular study in a family with a C104R mutation.
methodsWe have undertaken segregation analysis of a kindred with C104R mutations of the TACI gene. Detailed immunological and molecular investigations were carried out for this kindred and the clinical phenotype was compared to the genotype.
resultsSegregation analysis of our kindred showed that inheriting single or double copy of the C104R mutation does not consign an individual to CVID. All heterozygotes in the family were phenotypically different, ranging from asymptomatic to ill-health. A family member with a wild type TACI variant had CVID-related phenotype including IgA deficiency and type 1 diabetes. Interestingly, a family member with the homozygous C104R/C104R variant did not meet the criteria for CVID because he had excellent, albeit unsustained, vaccine responses to T cell dependent and T cell independent vaccine antigens despite profound hypogammaglobulinemia.
conclusionThe C104R mutation does not correlate with the clinical phenotypes in this family.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.