ReviewClinical and experimental immunology2017
The role of genomics in common variable immunodeficiency disorders.
Review in Clinical and experimental immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 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
44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 85 citations in OpenAlex.
- Global Distribution of Common Variable Immunodeficiency (CVID) in the Light of the UNDP Human Development Index (HDI): A Preliminary Perspective of a Rare Disease.Journal of immunology research · 2020Pooled it
- Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.Journal of clinical immunology · 2019Pooled it
- The Prognostic Impact of Enteropathy and Liver Disease in Common Variable Immunodeficiency: A Retrospective Cohort Study.Clinical and translational gastroenterology · 2026Article
- Endocrinopathies associated with pediatric common variable immunodeficiency.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Impaired T cell and neoantigen retention in time-serial analysis of metastatic non-small cell lung cancer in patients unresponsive to TIL cell therapy.Nature cancer · 2025Article
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs.Journal of clinical immunology · 2024Article
- Revealing disease subtypes and heterogeneity in common variable immunodeficiency through transcriptomic analysis.Scientific reports · 2024Article
- Equine common variable immunodeficiency: lessons from 100 clinical cases.Equine veterinary education · 2024Article
- Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2024Review
- Cross-population applications of genomics to understand the risk of multifactorial traits involving inflammation and immunity.Cambridge prisms. Precision medicine · 2024Review
- Article
- Microbiome and Its Dysbiosis in Inborn Errors of Immunity.Pathogens (Basel, Switzerland) · 2023Review
- Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with aFrontiers in oncology · 2023Article
- Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.International journal of environmental research and public health · 2022Article
- Common Variable Immunodeficiency in Elderly Patients: A Long-Term Clinical Experience.Biomedicines · 2022Article
- Primary antibody deficiencies in Turkey: molecular and clinical aspects.Immunologic research · 2022Article
- Deciphering imprints of impaired memory B-cell maturation in germinal centers of three patients with common variable immunodeficiency.Frontiers in immunology · 2022Article
- Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency.Frontiers in immunology · 2022Article
- Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders.Journal of clinical immunology · 2021Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The advent of next-generation sequencing (NGS) and 'omic' technologies has revolutionized the field of genetics, and its implementation in health care has the potential to realize precision medicine. Primary immunodeficiencies (PID) are a group of rare diseases which have benefited from NGS, with a massive increase in causative genes identified in the past few years. Common variable immunodeficiency disorders (CVID) are a heterogeneous form of PID and the most common form of antibody failure in children and adults. While a monogenic cause of disease has been identified in a small subset of CVID patients, a genomewide association study and whole genome sequencing have found that, in the majority, a polygenic cause is likely. Other NGS technologies such as RNA sequencing and epigenetic studies have contributed further to our understanding of the contribution of altered gene expression in CVID pathogenesis. We believe that to unravel further the complexities of CVID, a multi-omic approach, combining DNA sequencing with gene expression, methylation, proteomic and metabolomics data, will be essential to identify novel disease-associated pathways and therapeutic targets.
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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.