ArticleJournal of clinical immunology2015
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.
Article in Journal of clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Trial
- Targeted Next-Generation Sequencing in the Molecular Diagnosis of Severe Combined Immunodeficiency.Medicina (Kaunas, Lithuania) · 2025Article
- Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency.Journal of clinical immunology · 2024Article
- Long-Term Immune Recovery After Hematopoietic Stem Cell Transplantation for ADA Deficiency: a Single-Center Experience.Journal of clinical immunology · 2022Article
- Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy.Journal of clinical immunology · 2021Article
- StrimvelisPharmacoEconomics - open · 2019Review
- Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.The Journal of allergy and clinical immunology · 2019Review
- Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient.Clinical immunology (Orlando, Fla.) · 2018Article
- ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.Journal of clinical immunology · 2018Article
- Gene therapy in rare diseases: the benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID.Orphanet journal of rare diseases · 2018Article
- Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia.Frontiers in pediatrics · 2018Article
- Long-Term Outcome of Adenosine Deaminase-Deficient Patients-a Single-Center Experience.Journal of clinical immunology · 2017Article
- Advances in clinical immunology in 2015.The Journal of allergy and clinical immunology · 2016Review
- Adenosine Deaminase Deficiency - More Than Just an Immunodeficiency.Frontiers in immunology · 2016Review
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe carried out a retrospective analysis of 27 patients with Adenosine Deaminase (ADA) deficiency diagnosed in a single center from 1997 to the 2013, for evaluating whether data regarding types of disease-inducing mutations, biochemical and immunological features as well as clinical outcomes of patients treated with enzyme replacement or transplantation, were comparable to those obtained in multicenter studies.
methodsThe ADA deficiency diagnosis was performed with biochemical, immunological and molecular techniques. Ten patients treated with hematopoietic stem cell transplantation and three in treatment with enzyme replacement were followed up in our center.
resultsTwenty-four different mutations were identified and five were not previously reported. Identical mutations were found among patients from the same Romani ethnic group or from the same geographical region. A more rapid recovery was observed in enzyme replacement treated patients in comparison with those transplanted that, however, showed a continuous and long-lasting improvement both in terms of immune and metabolic recovery.
conclusionThe data obtained in our single center are comparable with those that have been reported in multicenter surveys.
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