ReviewFrontiers in immunology2021
Monogenic Adult-Onset Inborn Errors of Immunity.
Review in Frontiers in immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 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.
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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
33 citing papers in PubMed.
- Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features.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
- Article
- Living with a systemic autoinflammatory disease: burden of disease and effects on quality of life-an international patient survey.EULAR rheumatology open · 2026Article
- Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.The Journal of allergy and clinical immunology · 2026Article
- Three Doses and Six Months Later: Real-World SARS-CoV-2 Specific Humoral and Cell-Mediated Immunity in Children With Inborn Errors of Immunity.Journal of clinical immunology · 2026Observational
- Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations.International journal of molecular sciences · 2026Article
- Atypical X-linked agammaglobulinemia diagnosed in adulthood with arthritis caused by a hypomorphic BTK splice-site variant: a case report and literature review.Frontiers in immunology · 2026Review
- Article
- Immunodeficiencies in Adults: Key Considerations for Diagnosis and Management.Clinical reviews in allergy & immunology · 2025Review
- Lymphoproliferative Disorders Mimicking Rheumatologic Disease: A Clinical Reasoning Perspective.Current allergy and asthma reports · 2025Review
- Allelic bias contributes to heterogeneous phenotypes of NK cell deficiency.Cell reports · 2025Article
- Application of Artificial Intelligence in Inborn Errors of Immunity Identification and Management: Past, Present, and Future-A Systematic Review.Journal of clinical medicine · 2025Review
- Identifying genetic errors of immunity due to mosaicism.The Journal of experimental medicine · 2025Review
- Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia.The Journal of clinical investigation · 2025Article
- Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case.Case reports in immunology · 2025Article
- Second part.Biomedica : revista del Instituto Nacional de Salud · 2024Article
- From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in ColombiaBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.Journal of clinical immunology · 2024Article
- Developing a genetic testing panel for evaluation of morbidities in kidney transplant recipients.Kidney international · 2024Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic defects that functionally impact the development and/or function of the innate and/or adaptive immune system. The majority of these disorders are thought to have polygenic background. However, the use of next-generation sequencing in patients with IEI has led to an increasing identification of monogenic causes, unravelling the exact pathophysiology of the disease and allowing the development of more targeted treatments. Monogenic IEI are not only seen in a pediatric population but also in adulthood, either due to the lack of awareness preventing childhood diagnosis or due to a delayed onset where (epi)genetic or environmental factors can play a role. In this review, we discuss the mechanisms accounting for adult-onset presentations and provide an overview of monogenic causes associated with adult-onset IEI.
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