ArticleFrontiers in immunology2019
Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile Associated With a Polygenic Burden.
Article in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- From variants to answers: The evolution of genetic counseling in IEI.Journal of human immunity · 2026Review
- Gastrointestinal Manifestations of Common Variable Immunodeficiency: A Mentored Review.Digestive diseases and sciences · 2025Review
- Atopy-related immune profiles are subject to genetic influence as evaluated using school-aged twin pairs.Science advances · 2025Article
- Genetics in a Danish Common Variable Immunodeficiency Cohort.Journal of clinical immunology · 2025Article
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2024Review
- Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease.Science translational medicine · 2024Article
- Decoding mutational hotspots in human disease through the gene modules governing thymic regulatory T cells.Frontiers in immunology · 2024Article
- Leveraging Systems Immunology to Optimize Diagnosis and Treatment of Inborn Errors of Immunity.Frontiers in systems biology · 2022Article
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monozygotic twins provide a unique opportunity to better understand complex genetic diseases and the relative contribution of heritable factors in shaping the immune system throughout life. Common Variable Immunodeficiency Disorders (CVID) are primary antibody defects displaying wide phenotypic and genetic heterogeneity, with monogenic transmission accounting for only a minority of the cases. Here, we report a pair of monozygotic twins concordant for CVID without a family history of primary immunodeficiency. They featured a remarkably similar profile of clinical manifestations and immunological alterations at diagnosis (established at age 37) and along the subsequent 15 years of follow-up. Interestingly, whole-exome sequencing failed to identify a monogenic cause for CVID, but unraveled a combination of heterozygous variants, with a predicted deleterious impact. These variants were found in genes involved in relevant immunological pathways, such as
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