ReviewCellular & molecular immunology2021
Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.
Review in Cellular & molecular immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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.
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Who cites it
24 citing papers in PubMed, 38 citations in OpenAlex.
- Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient.Journal of clinical immunology · 2025Article
- Endocrinopathies associated with pediatric common variable immunodeficiency.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Genetics in a Danish Common Variable Immunodeficiency Cohort.Journal of clinical immunology · 2025Article
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.Frontiers in immunology · 2025Article
- Protecting children and adults with primary antibody deficiencies against common and emergent pathogens and non-infectious complications.Clinical and experimental immunology · 2024Review
- Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2024Review
- Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.Journal of clinical immunology · 2024Article
- An Overview of the Strategies to Boost SARS-CoV-2-Specific Immunity in People with Inborn Errors of Immunity.Vaccines · 2024Review
- Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectives.Immunotherapy advances · 2024Review
- Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens.Frontiers in pediatrics · 2024Review
- Characterizing CD38 expression in terminally differentiated B cells using variable lymphocyte receptor B tetramers.Frontiers in 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
- Evaluating the prevalence of inborn errors of immunity in adults with chronic immune thrombocytopenia or Evans syndrome.Blood advances · 2023Article
- Interplay between epigenetic and genetic alterations in inborn errors of immunity.Trends in immunology · 2023Review
- Dysregulated Lymphocyte Antigen Receptor Signaling in Common Variable Immunodeficiency with Granulomatous Lymphocytic Interstitial Lung Disease.Journal of clinical immunology · 2023Article
- Genetic characteristics of common variable immunodeficiency patients with autoimmunity.Frontiers in genetics · 2023Article
- The pediatric common variable immunodeficiency - from genetics to therapy: a review.European journal of pediatrics · 2022Review
- Common Variable Immunodeficiency in Elderly Patients: A Long-Term Clinical Experience.Biomedicines · 2022Article
- B- and T-Cell Subset Abnormalities in Monogenic Common Variable Immunodeficiency.Frontiers in immunology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Predominantly antibody deficiency (PAD) is the most prevalent form of primary immunodeficiency, and is characterized by broad clinical, immunological and genetic heterogeneity. Utilizing the current gold standard of whole exome sequencing for diagnosis, pathogenic gene variants are only identified in less than 20% of patients. While elucidation of the causal genes underlying PAD has provided many insights into the cellular and molecular mechanisms underpinning disease pathogenesis, many other genes may remain as yet undefined to enable definitive diagnosis, prognostic monitoring and targeted therapy of patients. Considering that many patients display a relatively late onset of disease presentation in their 2
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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.