ArticleBlood2020
Current genetic landscape in common variable immune deficiency.
Article in Blood, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 3 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
99 citing papers in PubMed, 3 syntheses or guidelines pooled it, 178 citations in OpenAlex.
- Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review.Journal of clinical immunology · 2024Pooled it
- Systematic review of mortality and survival rates for APDS.Clinical and experimental medicine · 2024Pooled it
- Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.Frontiers in immunology · 2021Pooled it
- Genotype-phenotype analysis in 333 individuals with heterozygous variants in NFKB1.Journal of human immunity · 2027Article
- Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients.Journal of human immunity · 2026Article
- Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.International journal of molecular sciences · 2026Article
- APOBEC2 deficiency disrupts hematopoietic lineage commitment, resulting in emergence of dual identity lymphocytes in mice and humans.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Bridging Rare to Common Diseases: Precision Medicine and the Transforming Landscape of Pediatric Allergy and Immunology.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026Review
- Investigating serum free light chains in patients with common variable immunodeficiency disorder in compare with other immunodeficiency diseases.Scientific reports · 2026Article
- IgA defects in CVID lead to bacterial translocation, increased serum γ-interferon, and BAFF.Journal of human immunity · 2026Article
- Global research landscape of inborn errors of immunity: a bibliometric analysis (1991-2025).Orphanet journal of rare diseases · 2026Review
- A systematic literature review of CVID reveals pervasive detrimental noninfectious manifestations.Journal of human immunity · 2026Article
- Impaired mucosal IgA response to SARS-CoV-2 in patients with inborn errors of immunity.Frontiers in immunology · 2026Article
- Prevalence, associated clinical factors, and genetic characteristics of endocrinopathies in common variable immunodeficiency: a retrospective study of 95 adult patients from a single tertiary care center.Frontiers in immunology · 2026Observational
- Cerebral inflammation in a patient with Kabuki syndrome.Acta neurologica Belgica · 2025Article
- Re-evaluation of the contribution ofJournal of human immunity · 2025Article
- Mastering genetics for your clinic: A step-by-step guide.The Journal of allergy and clinical immunology · 2025Review
- Endocrinopathies associated with pediatric common variable immunodeficiency.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Primary versus Secondary Immune Thrombocytopenia (ITP): A Meeting Report from the 2023 McMaster ITP Summit.Thrombosis and haemostasis · 2025Article
- IKZF-associated inborn errors of immunity.Journal of human immunity · 2025Review
39 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 3 countries.
Funding
Abstract
Using whole-exome sequencing to examine the genetic causes of immune deficiency in 235 common variable immunodeficiency (CVID) patients seen in the United States (Mount Sinai, New York), 128 patients from Sweden, and 208 from Iran revealed 68 known disease-causing genes underlying this heterogeneous immune defect. The patients at the time of study ranged from 4 to 90 years of age. Overall, 31%, 36%, and 54% of the patients in the US, Swedish, or Iranian cohorts had mutations. The multiplicity of genes identified in the 571 subjects reflects the complex requirements of B-cell antigen signaling, activation, survival, migration, maturation, and maintenance of antibody-secreting memory B-cell populations to the plasma cell stage. For the US and Swedish cohorts, CVID subjects with noninfectious complications, lymphoid infiltrations, inflamatory conditions, or autoimmunity were somewhat more likely to have an identifiable gene, but in both cohorts, numerous subjects with these medical conditions had no potential gene that could be assigned. Specific clinical patterns of illnesses were also not linked to any given gene defect as there was considerable overlap in clinical presentations. These observations led to a new perspective on the complexity of the immunologic phenotype found in CVID syndrome.
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What OpenQuestion holds
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.