ArticleFrontiers in immunology2017
Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in
Article in Frontiers in immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
What it found
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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
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 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
- Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review.Frontiers in immunology · 2020Pooled it
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Resolution of Squamous-Cell Carcinoma by Restoring T-Cell Receptor Signaling.The New England journal of medicine · 2025Article
- Two patients with ZAP-70 deficiency in China present with a different genetic, immunological, and clinical phenotype.BMC pediatrics · 2023Article
- A Review of Radiation-Induced Alterations of Multi-Omic Profiles, Radiation Injury Biomarkers, and Countermeasures.Radiation research · 2023Review
- Case report: Artemis deficiency and 3M syndrome-coexistence of two distinct genetic disorders.Frontiers in pediatrics · 2023Article
- Nature and nurture: understanding phenotypic variation in inborn errors of immunity.Frontiers in cellular and infection microbiology · 2023Review
- The Pathogenesis of Giant Condyloma Acuminatum (Buschke-Lowenstein Tumor): An Overview.International journal of molecular sciences · 2022Review
- Human genetic and immunological dissection of papillomavirus-driven diseases: new insights into their pathogenesis.Current opinion in virology · 2021Review
- Integrative network analyses of transcriptomics data reveal potential drug targets for acute radiation syndrome.Scientific reports · 2021Article
- Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis.Frontiers in molecular neuroscience · 2021Review
- X-Linked Thrombocytopenia and Vanishing White Matter Disease in a Child: Double Tragedy.Journal of clinical immunology · 2020Article
- Incomplete penetrance in primary immunodeficiency: a skeleton in the closet.Human genetics · 2020Review
- Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis.Human genetics · 2020Review
- Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings.Frontiers in immunology · 2017Article
Corrections and comments
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Authors and funding
11 authors at 7 institutions in 3 countries.
Funding
Abstract
With the advent of high-throughput genomic sequencing techniques, novel genetic etiologies are being uncovered for previously unexplained Mendelian phenotypes, and the underlying genetic architecture of disease is being unraveled. Although most of these "mendelizing" disease traits represent phenotypes caused by single-gene defects, a percentage of patients have blended phenotypes caused by pathogenic variants in multiple genes. We describe an adult patient with susceptibility to bacterial, herpesviral, and fungal infections. Immunologic defects included CD8
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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.