ArticleThe Journal of allergy and clinical immunology2011
Genome-wide association identifies diverse causes of common variable immunodeficiency.
Article in The Journal of allergy and clinical immunology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 2 of them syntheses that pooled it.
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Who cites it
96 citing papers in PubMed, 2 syntheses or guidelines pooled it, 190 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
- Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.Nature medicine · 2015Pooled it
- Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.International journal of molecular sciences · 2026Article
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Application of Artificial Intelligence in Inborn Errors of Immunity Identification and Management: Past, Present, and Future-A Systematic Review.Journal of clinical medicine · 2025Review
- Review
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease.Science translational medicine · 2024Article
- Proceedings from the inaugural Artificial Intelligence in Primary Immune Deficiencies (AIPID) conference.The Journal of allergy and clinical immunology · 2024Article
- Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.Journal of clinical immunology · 2024Article
- Plasma Levels of mir-34a-5p Correlate with Systemic Inflammation and Low Naïve CD4 T Cells in Common Variable Immunodeficiency.Journal of clinical immunology · 2023Article
- Genetic characteristics of common variable immunodeficiency patients with autoimmunity.Frontiers in genetics · 2023Article
- Granulomatous inflammation in inborn errors of immunity.Frontiers in pediatrics · 2023Review
- Comprehensive Assessment of Skin Disorders in Patients with Common Variable Immunodeficiency (CVID).Journal of clinical immunology · 2022Article
- A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly.Cell death and differentiation · 2022Article
- Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders.Journal of clinical immunology · 2021Article
- Variable immunodeficiency score upfront analytical link (VISUAL), a proposal for combined prognostic score at diagnosis of common variable immunodeficiency.Scientific reports · 2021Article
- The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).Scientific reports · 2021Article
- Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.Cellular & molecular immunology · 2021Review
- Innate Mechanisms in Selective IgA Deficiency.Frontiers in immunology · 2021Review
36 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 3 countries.
Funding
Abstract
backgroundCommon variable immunodeficiency (CVID) is a heterogeneous immune defect characterized by hypogammaglobulinemia, failure of specific antibody production, susceptibility to infections, and an array of comorbidities.
objectiveTo address the underlying immunopathogenesis of CVID and comorbidities, we conducted the first genome-wide association and gene copy number variation (CNV) study in patients with CVID.
methodsThree hundred sixty-three patients with CVID from 4 study sites were genotyped with 610,000 single nucleotide polymorphisms (SNPs). Patients were divided into a discovery cohort of 179 cases in comparison with 1,917 control subjects and a replication cohort of 109 cases and 1,114 control subjects.
resultsOur analyses detected strong association with the MHC region and association with a disintegrin and metalloproteinase (ADAM) genes (P combined = 1.96 × 10(-7)) replicated in the independent cohort. CNV analysis defined 16 disease-associated deletions and duplications, including duplication of origin recognition complex 4L (ORC4L) that was unique to 15 cases (P = 8.66 × 10(-16)), as well as numerous unique rare intraexonic deletions and duplications suggesting multiple novel genetic causes of CVID. Furthermore, the 1,000 most significant SNPs were strongly predictive of the CVID phenotype by using a Support Vector Machine algorithm with positive and negative predictive values of 1.0 and 0.957, respectively.
conclusionOur integrative genome-wide analysis of SNP genotypes and CNVs has uncovered multiple novel susceptibility loci for CVID, both common and rare, which is consistent with the highly heterogeneous nature of CVID. These results provide new mechanistic insights into immunopathogenesis based on these unique genetic variations and might allow for improved diagnosis of CVID based on accurate prediction of the CVID clinical phenotypes by using our Support Vector Machine model.
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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.