Immacolata Brigida

The San Raffaele Telethon Institute for Gene Therapy — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

22h-index3.1kcitations52works0.02yr avg
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Research Topics

Virus-based gene therapy research(24), CAR-T cell therapy research(20), Immunodeficiency and Autoimmune Disorders(17), Cytomegalovirus and herpesvirus research(14), Immune Cell Function and Interaction(8)

Publications52 total

Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency
Frontiers in Immunology·2022· 8 citedOpen Access
Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency
European Journal of Immunology·2022· 16 citedOpen Access
Lentiviral-Mediated Gene Therapy for the Treatment of Adenosine Deaminase 2 Deficiency
Blood·2021· 2 cited
Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency
Blood Advances·2021· 34 citedOpen Access
Follicular helper T cell signature of replicative exhaustion, apoptosis and senescence in common variable immunodeficiency
2021Open Access
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
The Journal of Experimental Medicine·2019· 191 citedOpen Access
FRI0540 A NOVEL AUTOINFLAMMATORY DISEASE CHARACTERIZED BY NEONATAL-ONSET CYTOPENIA WITH AUTOINFLAMMATION, RASH, AND HEMOPHAGOCYTOSIS (NOCARH) DUE TO ABERRANT CDC42 FUNCTION
Annals of the Rheumatic Diseases·2019· 3 citedOpen Access
Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies
Frontiers in Immunology·2019· 11 citedOpen Access
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
The Lancet Haematology·2019· 201 citedOpen Access
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies
Frontiers in Immunology·2019· 61 citedOpen Access
First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia
Frontiers in Immunology·2019· 22 citedOpen Access
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
Journal of Allergy and Clinical Immunology·2019· 116 citedOpen Access
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation
Frontiers in Immunology·2019· 46 citedOpen Access
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency
Blood·2018· 115 citedOpen Access
Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia
Journal of Pediatric Hematology/Oncology·2018· 8 cited
First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature
Frontiers in Immunology·2018· 31 citedOpen Access
ALPS-lile phenothype due to ADA2 deficiency rescued by allogeneic stem cell transplantation
2018
Biological and functional characterization of bone marrow-derived mesenchymal stromal cells from patients affected by primary immunodeficiency
Scientific Reports·2017· 17 citedOpen Access
Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection
Journal of Clinical Immunology·2016· 45 citedOpen Access
ACTIVATING N-RAS SOMATIC MUTATION CAUSES AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
2016
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Frequent Co-authors

Alessandro Aiuti(45), Francesca Ferrua(19), Maria Pia Cicalese(17), Federica Barzaghi(15), Fabio Ciceri(12), Maria Grazia Roncarolo(12), Caterina Cancrini(12), Matteo Zoccolillo(12), Samantha Scaramuzza(11), Silvia Di Cesare(9), Andrea Finocchi(9), Paolo Rossi(8), Aisha V. Sauer(8), Gigliola Di Matteo(8), Sarah Marktel(7), Stefania Giannelli(7), Miriam Casiraghi(7), Maria Serena Chiriacò(7), Marco Gattorno(7), Claudio Bordignon(6)