ArticleFrontiers in immunology2017
Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders.
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 26 papers.
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Who cites it
26 citing papers in PubMed, 46 citations in OpenAlex.
- Digenic and multigenic heterozygous FHL genotypes are common but clinically silent in the general population.Blood advances · 2026Article
- Common Variable Immunodeficiency Disorders: A perspective from New Zealand.Clinical reviews in allergy & immunology · 2025Review
- Re-evaluation of the contribution ofJournal of human immunity · 2025Article
- The Burden of Non-Infectious Organ-Specific Immunopathology in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2025Review
- Opinion: the evolving understanding of polygenic common variable immunodeficiency-like disorders.Frontiers in immunology · 2025Article
- Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2024Review
- Article
- Multiple inborn errors of type I IFN immunity in a 33-year-old male with a fatal case of COVID-19.Heliyon · 2024Article
- Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?International journal of molecular sciences · 2023Review
- Immunologic and Genetic Contributors to CD46-Dependent Immune Dysregulation.Journal of clinical immunology · 2023Article
- Integrating Clinics, Laboratory, and Imaging for the Diagnosis of Common Variable Immunodeficiency-Related Granulomatous-Lymphocytic Interstitial Lung Disease.Frontiers in immunology · 2022Article
- X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia.Journal of clinical immunology · 2022Article
- Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.Clinical reviews in allergy & immunology · 2021Review
- Comparison of Diagnostic Criteria for Common Variable Immunodeficiency Disorders (CVID) in the New Zealand CVID Cohort Study.Clinical reviews in allergy & immunology · 2021Article
- Common Variable Immunodeficiency Disorders, T-Cell Responses to SARS-CoV-2 Vaccines, and the Risk of Chronic COVID-19.The journal of allergy and clinical immunology. In practice · 2021Article
- Bronchiectasis is associated with delayed diagnosis and adverse outcomes in the New Zealand Common Variable Immunodeficiency Disorders cohort study.Clinical and experimental immunology · 2021Observational
- 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
- Whole exome sequencing in familial isolated primary hyperparathyroidism.Journal of endocrinological investigation · 2020Article
- Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.Frontiers in immunology · 2019Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The existence of epistasis in humans was first predicted by Bateson in 1909. Epistasis describes the non-linear, synergistic interaction of two or more genetic loci, which can substantially modify disease severity or result in entirely new phenotypes. The concept has remained controversial in human genetics because of the lack of well-characterized examples. In humans, it is only possible to demonstrate epistasis if two or more genes are mutated. In most cases of epistasis, the mutated gene products are likely to be constituents of the same physiological pathway leading to severe disruption of a cellular function such as antibody production. We have recently described a digenic family, who carry mutations of
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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.