| Nome |
# |
|
Overhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to SLC4A1 variants, file 13484c22-40b0-4f7f-9e32-eb4416cbf3ca
|
88
|
|
Wiskott–Aldrich syndrome: Oral findings and microbiota in children and review of the literature, file e0c35a4c-fdb5-5883-e053-d805fe0ac580
|
6
|
|
Persistence of circulating T-follicular helper cells after rituximab is associated with relapse of IgG4-related disease, file e0c35a4c-fdba-5883-e053-d805fe0ac580
|
6
|
|
Reduced PD-1 expression on circulating follicular and conventional FOXP3+ Treg cells in children with new onset type 1 diabetes and autoantibody-positive at-risk children, file b23addb2-de92-4c19-b9d6-8b1196becb9e
|
5
|
|
Integration profile of retroviral vector in gene therapy treated patients is cell-specific according to gene expression and chromatin conformation of target cell, file e0c35a4c-05df-5883-e053-d805fe0ac580
|
5
|
|
Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child with Intermittent Neutropenia, file e0c35a4c-5d24-5883-e053-d805fe0ac580
|
5
|
|
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation, file e0c35a4c-68ae-5883-e053-d805fe0ac580
|
5
|
|
Updated Management Guidelines for Adenosine Deaminase Deficiency, file 2bb06bc1-dadb-4379-9e01-a7f914c63485
|
4
|
|
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?, file 81ec605d-2132-49d7-a78b-22efcac1d1db
|
4
|
|
ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency, file e0c35a4b-df51-5883-e053-d805fe0ac580
|
4
|
|
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial, file e0c35a4b-ec6a-5883-e053-d805fe0ac580
|
4
|
|
JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene, file e0c35a4c-5ebe-5883-e053-d805fe0ac580
|
4
|
|
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19, file bee7c945-0e3e-4c79-8913-a12ceffceef6
|
3
|
|
Unpredictability of Intravenous Busulfan Pharmacokinetics in Children Undergoing Hematopoietic Stem Cell Transplantation for Advanced Beta Thalassemia: Limited Toxicity with a Dose-Adjustment Policy, file e0c35a4b-e41d-5883-e053-d805fe0ac580
|
3
|
|
Tracking genetically engineered lymphocytes long-term reveals the dynamics of T cell immunological memory, file e0c35a4c-0469-5883-e053-d805fe0ac580
|
3
|
|
Integration profile of retroviral vector in gene therapy treated patients is cell-specific according to gene expression and chromatin conformation of target cell, file e0c35a4c-12fe-5883-e053-d805fe0ac580
|
3
|
|
Mesenchymal stromal cells improve the transplantation outcome of CRISPR-Cas9 gene-edited human HSPCs., file 2eddc1f6-8752-4afa-859c-66baed9b536d
|
2
|
|
SARS-CoV-2 infection and treatment in a cohort of patients with inborn errors of immunity, file 7e2f050a-4439-42f2-9e2f-b591761f2687
|
2
|
|
Hot spots of retroviral integration in human CD34+ hematopoietic cells, file e0c35a4b-df3a-5883-e053-d805fe0ac580
|
2
|
|
In vivo tracking of T cells in humans unveils decade-long survival and activity of genetically modified T memory stem cells, file e0c35a4b-f184-5883-e053-d805fe0ac580
|
2
|
|
Clinical improvement and normalized Th1 cytokine profile in early and long-term Interferon-alpha treatment in a suspected case of Hyper-IgE Syndrome, file e0c35a4c-09fd-5883-e053-d805fe0ac580
|
2
|
|
Erratum: Tracking genetically engineered lymphocytes long-term reveals the dynamics of T cell immunological memory (Science Translational Medicine (2015) 7:319 (319er9)), file e0c35a4c-0db6-5883-e053-d805fe0ac580
|
2
|
|
Integration of Retroviral Vector Induces Minor Changes in the Transcriptional Activity of T Cells from ADA-SCID Patients Treated with Gene Therapy, file e0c35a4c-5a85-5883-e053-d805fe0ac580
|
2
|
|
Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase δ syndrome: The European society for immunodeficiencies-activated phosphoinositide 3-kinase δ syndrome registry, file e0c35a4c-6635-5883-e053-d805fe0ac580
|
2
|
|
New perspectives in gene therapy for inherited disorders, file e0c35a4c-9ce5-5883-e053-d805fe0ac580
|
2
|
|
Bone marrow–derived CD34− fraction: A rich source of mesenchymal stromal cells for clinical application, file e0c35a4c-d0d8-5883-e053-d805fe0ac580
|
2
|
|
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access, file e0c35a4c-f8c1-5883-e053-d805fe0ac580
|
2
|
|
Good Laboratory Practice Preclinical Safety Studies for GSK2696273 (MLV Vector-Based Ex Vivo Gene Therapy for Adenosine Deaminase Deficiency Severe Combined Immunodeficiency) in NSG Mice, file e0c35a4c-feba-5883-e053-d805fe0ac580
|
2
|
|
Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency, file ea069d1f-827b-4207-b0f1-47a1e9798356
|
2
|
|
Hematopoietic reconstitution dynamics of mobilized- and bone marrow-derived human hematopoietic stem cells after gene therapy, file feef38a1-5d49-4f5c-bf0a-83349666b43c
|
2
|
|
Ensuring a future for gene therapy for rare diseases, file 18cbbfaf-3faf-4464-9336-2b6d250390e6
|
1
|
|
Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children, file 3c373e8c-06ff-459e-a616-951438374479
|
1
|
|
Hematopoietic stem-and progenitor-cell gene therapy for hurler syndrome, file 5cf84237-3871-4e7a-a50b-2d161a1838d9
|
1
|
|
Recent advances in understanding the pathophysiology of wiskott-aldrich syndrome, file e0c35a4b-d621-5883-e053-d805fe0ac580
|
1
|
|
HIV-1 envelope-dependent restriction of CXCR4-using viruses in child but not adult untransformed CD4+ T-lymphocyte lines, file e0c35a4b-d6a9-5883-e053-d805fe0ac580
|
1
|
|
Lentiviral vector gene therapy protects XCGD mice from acute Staphylococcus aureus pneumonia and inflammatory response, file e0c35a4b-d96a-5883-e053-d805fe0ac580
|
1
|
|
In Vivo Tracking of Human Hematopoiesis Reveals Patterns of Clonal Dynamics during Early and Steady-State Reconstitution Phases, file e0c35a4b-de5a-5883-e053-d805fe0ac580
|
1
|
|
Lentiviral-mediated gene therapy leads to improvement of B-cell functionality in a murine model of Wiskott-Aldrich syndrome, file e0c35a4b-df49-5883-e053-d805fe0ac580
|
1
|
|
Ten years of gene therapy for primary deficiencies, file e0c35a4b-df9f-5883-e053-d805fe0ac580
|
1
|
|
Gene therapy for primary immunodeficiencies: Part 2, file e0c35a4b-dfc1-5883-e053-d805fe0ac580
|
1
|
|
Gene therapy for immunodeficiency due to adenosine deaminase deficiency, file e0c35a4b-e307-5883-e053-d805fe0ac580
|
1
|
|
Integration of Retroviral Vector Induces Minor Changes in the Transcriptional Activity of T Cells from ADA-SCID Patients Treated with Gene Therapy, file e0c35a4b-e321-5883-e053-d805fe0ac580
|
1
|
|
Gene therapy for primary immunodeficiencies: Part 1, file e0c35a4b-e327-5883-e053-d805fe0ac580
|
1
|
|
Preclinical safety and efficacy of human CD34(+) cells transduced with lentiviral vector for the treatment of Wiskott-Aldrich syndrome., file e0c35a4b-e7a7-5883-e053-d805fe0ac580
|
1
|
|
B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients, file e0c35a4b-ed4a-5883-e053-d805fe0ac580
|
1
|
|
In vivo tracking of T cells in humans unveils decade-long survival and activity of genetically modified T memory stem cells, file e0c35a4b-f185-5883-e053-d805fe0ac580
|
1
|
|
B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients, file e0c35a4b-f274-5883-e053-d805fe0ac580
|
1
|
|
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy, file e0c35a4b-f636-5883-e053-d805fe0ac580
|
1
|
|
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy, file e0c35a4b-f637-5883-e053-d805fe0ac580
|
1
|
|
The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function, file e0c35a4b-ff23-5883-e053-d805fe0ac580
|
1
|
|
Uncovering Haematopoietic System Dynamics and Single Multipotent Progenitors Activity In Vivo In Humans by Retroviral Tagging, file e0c35a4c-0085-5883-e053-d805fe0ac580
|
1
|
|
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial, file e0c35a4c-05a0-5883-e053-d805fe0ac580
|
1
|
|
Tracking hematopoietic stem cell fate in humans by retroviral tagging, file e0c35a4c-0c19-5883-e053-d805fe0ac580
|
1
|
|
Multilineage hematopoietic reconstitution without clonal selection in ADA-SCID patients treated with stem cell gene therapy, file e0c35a4c-0ddd-5883-e053-d805fe0ac580
|
1
|
|
A novel genomic inversion in Wiskott-Aldrich-associated autoinflammation, file e0c35a4c-5174-5883-e053-d805fe0ac580
|
1
|
|
Hot spots of retroviral integration in human CD34+ hematopoietic cells, file e0c35a4c-62f0-5883-e053-d805fe0ac580
|
1
|
|
Gene therapy in rare diseases: The benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID, file e0c35a4c-6633-5883-e053-d805fe0ac580
|
1
|
|
Intrabone hematopoietic stem cell gene therapy for adult and pediatric patients affected by transfusion-dependent ß-thalassemia, file e0c35a4c-6a2b-5883-e053-d805fe0ac580
|
1
|
|
In vivo dynamics of human hematopoietic stem cells: Novel concepts and future directions, file e0c35a4c-8adf-5883-e053-d805fe0ac580
|
1
|
|
Gene therapy using haematopoietic stem and progenitor cells, file e0c35a4c-c28c-5883-e053-d805fe0ac580
|
1
|
|
Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study, file e0c35a4d-05c3-5883-e053-d805fe0ac580
|
1
|
| Totale |
211 |