ReviewClinical reviews in allergy & immunology2018
Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing.
Review in Clinical reviews in allergy & immunology, 2018. 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
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
44 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Lessons Learned From the Clinical Presentation of Common Variable Immunodeficiency Disorders: A Systematic Review and Meta-Analysis.Frontiers in immunology · 2021Pooled it
- Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.Journal of clinical immunology · 2019Pooled it
- The Intertwining Between Arthritis and Inborn Errors of Immunity.Journal of clinical medicine · 2026Review
- Porto-sinusoidal Vascular Disease is Associated with Gastrointestinal Disorders in Common Variable Immunodefiency.Journal of clinical immunology · 2026Article
- Common Variable Immunodeficiency Disorders: A perspective from New Zealand.Clinical reviews in allergy & immunology · 2025Review
- Monogenic Common Variable Immunodeficiency (Mo-CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort.European journal of immunology · 2025Article
- Clinical, immunological, and genetic landscape of common variable immunodeficiency in Morocco: a nationwide multicenter study.Frontiers in immunology · 2025Article
- Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.Journal of clinical immunology · 2024Article
- Is there a role for microbiome-based approach in common variable immunodeficiency?Clinical and experimental medicine · 2023Review
- Genetic characteristics of common variable immunodeficiency patients with autoimmunity.Frontiers in genetics · 2023Article
- Clinical manifestations and approach to the management of patients with common variable immunodeficiency and liver disease.Frontiers in immunology · 2023Article
- Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.International journal of environmental research and public health · 2022Article
- Droplet digital PCR for identifying copy number variations in patients with primary immunodeficiency disorders.Clinical and experimental immunology · 2022Article
- Common Variable Immunodeficiency in Elderly Patients: A Long-Term Clinical Experience.Biomedicines · 2022Article
- Secondary Immune Deficiency and Primary Immune Deficiency Crossovers: Hematological Malignancies and Autoimmune Diseases.Frontiers in immunology · 2022Review
- Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.Frontiers in immunology · 2022Article
- Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives.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
- Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.Clinical reviews in allergy & immunology · 2021Review
- 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
Common variable immunodeficiency disorders (CVID) are an enigmatic group of often heritable conditions, which may manifest for the first time in early childhood or as late as the eighth decade of life. In the last 5 years, next generation sequencing (NGS) has revolutionised identification of genetic disorders. However, despite the best efforts of researchers around the globe, CVID conditions have been slow to yield their molecular secrets. We have previously described the many clinical advantages of identifying the genetic basis of primary immunodeficiency disorders (PIDs). In a minority of CVID patients, monogenic defects have now been identified. If a causative mutation is identified, these conditions are reclassified as CVID-like disorders. Here we discuss recent advances in the genetics of CVID and discuss how NGS can be optimally deployed to identify the causal mutations responsible for the protean clinical manifestations of these conditions. Diagnostic criteria such as the Ameratunga et al. criteria will continue to play an important role in patient management as well as case selection and sequencing strategy design until the genetic conundrum of CVID is solved.
Indexed as
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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.