Search Results - "Deripapa, Elena"
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Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders
Published in Journal of allergy and clinical immunology (01-01-2018)“…Background Rare DNA breakage repair disorders predispose to infection and lymphoreticular malignancies. Hematopoietic cell transplantation (HCT) is curative,…”
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Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia
Published in Journal of clinical immunology (01-11-2021)“…Patients with ataxia-telangiectasia (A-T) suffer from progressive cerebellar ataxia, immunodeficiency, respiratory failure, and cancer susceptibility. From a…”
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Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome
Published in Orphanet journal of rare diseases (03-05-2019)“…Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal instability disorder that leads to aneuploidies of different chromosomes in various tissues. Type…”
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Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome
Published in Journal of clinical immunology (01-08-2020)“…Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to malignancies. HSCT appears to…”
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Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT)
Published in Frontiers in immunology (24-07-2017)“…Nijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defect, microcephaly, and other phenotypical features. It predominantly…”
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Efficacy of romiplostim in treatment of thrombocytopenia in children with Wiskott–Aldrich syndrome
Published in British journal of haematology (01-01-2021)“…Summary Wiskott–Aldrich syndrome (WAS) is a life‐threatening primary immunodeficiency associated with bleeding of variable severity due to thrombocytopenia…”
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Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
Published in Journal of clinical immunology (01-01-2019)“…The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been reported in…”
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Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma
Published in Journal of clinical immunology (01-01-2019)“…Purpose Nitazoxanide was recently reported as having in vitro effectiveness against the rubella virus. Immunodeficiency-related vaccine-derived rubella occurs…”
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Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome
Published in Clinical cancer research (15-01-2021)“…Nijmegen breakage syndrome (NBS) is a DNA repair disorder with a high predisposition to hematologic malignancies. We describe the natural history of NBS,…”
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Genomic characterization of lymphomas in patients with inborn errors of immunity
Published in Blood advances (27-09-2022)“…Patients with inborn errors of immunity (IEI) have a higher risk of developing cancer, especially lymphoma. However, the molecular basis for IEI-related…”
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Outcome of Hematopoietic Cell Transplantation for DNA-Double Strand Breakage Repair Disorders
Published in Journal of allergy and clinical immunology (07-04-2017)Get full text
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12
Primary Immunodeficiencies in Russia: Data From the National Registry
Published in Frontiers in immunology (06-08-2020)“…Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical…”
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