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Federica Barzaghi

pediatric immunohematology unit and bmt program
H指数:32
被引数:5,203

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Busulfan exposure variability and acute toxicity in pediatric patients undergoing hematopoietic stem cell gene therapy

接受造血干细胞基因治疗的儿童患者的白消安暴露变异性和急性毒性

2026-07-260
OAAI
Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function

白细胞中人E3泛素连接酶CBL的体细胞缺陷会损害b细胞,但不会损害T细胞的发育和功能

2026-01-150
OAAI
Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and non-confirmatory genetic testing

ADA2基因中罕见的因果变异体,见于酶活性降低且遗传学检测结果不符的患者

2025-11-280
OAAI
Gene therapy supports long-term reconstitution of patient hematopoietic stem cells in deficiency of adenosine deaminase 2

基因疗法支持腺苷脱氨酶2缺乏症患者造血干细胞的长期重建

2025-10-300
OAAI
Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities

腺苷脱氨酶2缺乏症患者在疾病表型和严重程度方面的早期骨髓改变

2025-02-010
OAAI
Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era
2024-12-230
OAAI
Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for diagnosing inborn errors of immunity

意大利原发性免疫缺陷网络关于使用和解释遗传检测以诊断原发性免疫缺陷的共识

2024-11-010
PRE
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERIC-mediated monocyte activation

白细胞CBL杂合性丧失患者的自身炎症是由组成型ERIC介导的单核细胞激活引起的

2024-10-150
PRE
Severe West Nile Virus and Severe Acute Respiratory Syndrome Coronavirus 2 Infections in a Patient With Thymoma and Anti-Type I Interferon Antibodies

胸腺瘤和抗I型干扰素抗体患者的严重西尼罗河病毒和新型冠状病毒感染

2024-07-081
PRE
A novel STING variant triggers endothelial toxicity and SAVI disease

一种新的STING变体触发内皮毒性和SAVI病

2024-07-021
OAAI
Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome
2024-05-012
PRE
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID
2024-04-301
OA
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency
2024-02-145
OA
Impact of newborn screening for SCID on the management of congenital athymia

新生儿SCID筛查对先天性厌食症管理的影响

2024-01-012
OAAI
Activated phosphoinositide 3-kinase d syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

活化的磷酸肌醇3-激酶d综合征: 来自ESID注册表的更新以及与其他自身免疫-淋巴增生先天性免疫错误的比较

2023-10-0116
OAAI
Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review
2023-06-263
OAAI
Outcome of BCG Vaccination in ADA-SCID Patients: A 12-Patient Series
2023-06-242
OAAI
Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation
2023-01-0116
OA