ArticleFrontiers in immunology2012
Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency.
Article in Frontiers in immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.
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The trial behind it
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Who cites it
81 citing papers in PubMed, 138 citations in OpenAlex.
- Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency.The New England journal of medicine · 2021Trial
- Serum adenosine deaminase activity is increased in systemic lupus erythematosus patients and correlated with disease activity.Immunologic research · 2018Trial
- Trial
- Therapeutic efficacy of Curcuma longa leaf extract in experimental models of arthritis.Inflammopharmacology · 2026Article
- The cancer ratio plus in the differential diagnosis of pleural effusions: a scoping review of current evidence.Biochemia medica · 2026Article
- Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.ImmunoTargets and therapy · 2026Review
- The role of gut microbiota dysbiosis in the pathogenesis of hyperuricemic nephropathy.Frontiers in molecular biosciences · 2026Review
- The dynamic interplay of M1/M2-like macrophages and adenosine deaminase activity modulates COVID-19 severity.Open medicine (Warsaw, Poland) · 2026Article
- Manipulation of the nucleotide pool in human, bacterial and plant immunity.Nature reviews. Immunology · 2026Review
- Seasonal Fluctuations and Stability of Adenosine in Dried Blood Spots for Neonatal Screening.International journal of neonatal screening · 2025Article
- Metabolomic alterations in human brain microvascular endothelial cells induced by traumatic injury.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Uncovering genomic diversity and signatures of selection in red Angus × Chinese red steppe crossbred cattle population.Scientific reports · 2025Article
- Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy.Journal of clinical immunology · 2025Observational
- Inhibition of A2AR alleviates adenosine-mediated suppression of plasma cell differentiation.Frontiers in immunology · 2025Article
- Targeting CD73 and correcting adenosinergic signaling in critically ill patients.Frontiers in pharmacology · 2025Review
- Patients Hospitalized with COVID-19 Demonstrate Distinct Plasma Cytokine and Chemokine Concentrations in vivo and TLR-Mediated Cytokine and Chemokine Production in Whole Blood in vitro.Journal of innate immunity · 2025Article
- Engineered Cardiac Tissues as a Platform for CRISPR-Based Mitogen Discovery.Advanced healthcare materials · 2025Article
- Article
- Gene and cell therapy of human genetic diseases: Recent advances and future directions.Journal of cellular and molecular medicine · 2024Review
- Best Practices for Development and Validation of Enzymatic Activity Assays to Support Drug Development for Inborn Errors of Metabolism and Biomarker Assessment.The AAPS journal · 2024Review
21 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Genetic defects in the adenosine deaminase (ADA) gene are among the most common causes for severe combined immunodeficiency (SCID). ADA-SCID patients suffer from lymphopenia, severely impaired cellular and humoral immunity, failure to thrive, and recurrent infections. Currently available therapeutic options for this otherwise fatal disorder include bone marrow transplantation (BMT), enzyme replacement therapy with bovine ADA (PEG-ADA), or hematopoietic stem cell gene therapy (HSC-GT). Although varying degrees of immune reconstitution can be achieved by these treatments, breakdown of tolerance is a major concern in ADA-SCID. Immune dysregulation such as autoimmune hypothyroidism, diabetes mellitus, hemolytic anemia, and immune thrombocytopenia are frequently observed in milder forms of the disease. However, several reports document similar complications also in patients on long-term PEG-ADA and after BMT or GT treatment. A skewed repertoire and decreased immune functions have been implicated in autoimmunity observed in certain B-cell and/or T-cell immunodeficiencies, but it remains unclear to what extent specific mechanisms of tolerance are affected in ADA deficiency. Herein we provide an overview about ADA-SCID and the autoimmune manifestations reported in these patients before and after treatment. We also assess the value of the ADA-deficient mouse model as a useful tool to study both immune and metabolic disease mechanisms. With focus on regulatory T- and B-cells we discuss the lymphocyte subpopulations particularly prone to contribute to the loss of self-tolerance and onset of autoimmunity in ADA deficiency. Moreover we address which aspects of immune dysregulation are specifically related to alterations in purine metabolism caused by the lack of ADA and the subsequent accumulation of metabolites with immunomodulatory properties.
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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.