Trial reportProceedings of the National Academy of Sciences of the United States of America2013
Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK.
Trial report in Proceedings of the National Academy of Sciences of the United States of America, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- CVID Enteropathy Associated With Chronic Norovirus Infection: Background, Clinical Features, and Therapeutic Aspects.Reviews in medical virology · 2025Review
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- Clinical and experimental treatment of primary humoral immunodeficiencies.Clinical and experimental immunology · 2024Review
- The Scope and Impact of Viral Infections in Common Variable Immunodeficiency (CVID) and CVID-like Disorders: A Literature Review.Journal of clinical medicine · 2024Review
- Identification of novel NFKB1 and ICOS frameshift variants in patients with CVID.Clinical and experimental immunology · 2023Article
- Hepatic transcriptome analyses of juvenile white bass (Frontiers in physiology · 2023Article
- B- and T-Cell Subset Abnormalities in Monogenic Common Variable Immunodeficiency.Frontiers in immunology · 2022Review
- Antibody-Targeted TNFRSF Activation for Cancer Immunotherapy: The Role of FcγRIIB Cross-Linking.Frontiers in pharmacology · 2022Review
- The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).Scientific reports · 2021Article
- Membrane lymphotoxin-αCell death & disease · 2021Article
- Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.Cellular & molecular immunology · 2021Review
- Update on Infections in Primary Antibody Deficiencies.Frontiers in immunology · 2021Review
- Pro-Inflammatory and B Cell Regulating Capacities of TWEAK in Rainbow Trout (Frontiers in immunology · 2021Article
- Specific Immune Response and Cytokine Production in CD70 Deficiency.Frontiers in pediatrics · 2021Article
- B Cell Disorders in Children: Part II.Current allergy and asthma reports · 2020Review
- Common variable immune deficiency, central diabetes insipidus, and anemia.Central-European journal of immunology · 2020Article
- Primary B-cell immunodeficiencies.Human immunology · 2019Review
- Common variable immune deficiency: Dissection of the variable.Immunological reviews · 2019Review
- Liability of sepsis is hardly determined by the COXI variant m.6459T>C.Journal of cellular and molecular medicine · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Mutations in the TNF family of proteins have been associated with inherited forms of immune deficiency. Using an array-based sequencing assay, we identified an autosomal-dominant deficiency in TNF-like weak inducer of apoptosis (TWEAK; TNFSF12) in a kindred with recurrent infection and impaired antibody responses to protein and polysaccharide vaccines. This mutation occurs in the sixth exon of TWEAK and results in the amino acid substitution R145C within the conserved TNF-homology domain of the full-length protein. TWEAK mutant protein formed high molecular weight aggregates under nonreducing conditions, suggesting an increased propensity for intermolecular interactions. As a result, mutant TWEAK associated with B-cell-activating factor (BAFF) protein and down-regulated the BAFF-mediated activation of the noncanonical NF-κB pathway through inhibition of p100 processing to p52, resulting in inhibition of BAFF-dependent B-cell survival and proliferation. As BAFF mediates T-cell-independent isotype switching and B-cell survival, our data implicate TWEAK as a disease-susceptibility gene for a humoral immunodeficiency.
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.