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Immacolata Brigida

fondazione telethon
H指数:23
被引数:3,145

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Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency
2022-09-294
OAAI
Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency
2021-08-2023
OA
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
2019-10-10142
OAAI
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

2019-06-0180
OAAI
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies (vol 10, 316, 2019)
2019-05-316
OAAI
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
2019-05-01155
OAAI
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies
2019-04-1141
OAAI
First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia
2019-02-1416
OAAI
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation
2019-01-1440
OAAI
First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature
2018-02-0223
OAAI
Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection
2016-10-2139
OAAI
B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients
2014-03-0127
OA