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Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiencyBLOOD ADVANCESIF7.12021-08-2023OA
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 functionJOURNAL OF EXPERIMENTAL MEDICINEIF10.62019-10-10142OAAI
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency由ARPC1B缺陷引起的联合免疫缺陷与严重感染,炎症和过敏JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGYIF11.22019-06-0180OAAI
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies (vol 10, 316, 2019)FRONTIERS IN IMMUNOLOGYIF5.92019-05-316OAAI
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 studyLANCET HAEMATOLOGYIF17.72019-05-01155OAAI
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary ImmunodeficienciesFRONTIERS IN IMMUNOLOGYIF5.92019-04-1141OAAI
First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV ViremiaFRONTIERS IN IMMUNOLOGYIF5.92019-02-1416OAAI
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell TransplantationFRONTIERS IN IMMUNOLOGYIF5.92019-01-1440OAAI
First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the LiteratureFRONTIERS IN IMMUNOLOGYIF5.92018-02-0223OAAI
Biological and functional characterization of bone marrow-derived mesenchymal stromal cells from patients affected by primary immunodeficiencySCIENTIFIC REPORTSIF3.92017-08-1518OAAI
Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV InfectionJOURNAL OF CLINICAL IMMUNOLOGYIF5.72016-10-2139OAAI
A novel genomic inversion in Wiskott-Aldrich-associated autoinflammationJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGYIF11.22016-08-0114OAAI
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndromeJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGYIF11.22015-09-0138OAAI
B-cell development and functions and therapeutic options in adenosine deaminase-deficient patientsJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGYIF11.22014-03-0127OA
Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapyJOURNAL OF CLINICAL INVESTIGATIONIF13.62012-06-0157OA
Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiencyFRONTIERS IN IMMUNOLOGYIF5.92012-01-01106OAAI
Purine metabolism, immune reconstitution, and abdominal adipose tumor after gene therapy for adenosine deaminase deficiencyJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGYIF11.22011-06-0114PRE
In vivo T-cell dynamics during immune reconstitution after hematopoietic stem cell gene therapy in adenosine deaminase severe combined immune deficiencyJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGYIF11.22011-06-0112OAAI
Integration profile of retroviral vector in gene therapy treated patients is cell-specific according to gene expression and chromatin conformation of target cellEMBO MOLECULAR MEDICINEIF8.32011-01-1791OAAI