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List of works by Immacolata Brigida

A novel genomic inversion in Wiskott-Aldrich-associated autoinflammation

scientific article published on 21 April 2016

Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID

scientific article

Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency

scientific article

B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.

scientific article published on 5 February 2014

B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.

scientific article published on 16 March 2015

Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy

scientific article

Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

scientific article

Hematopoietic stem cell gene therapy for adenosine deaminase deficient-SCID.

scientific article

Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity

scientific article

In vivo T-cell dynamics during immune reconstitution after hematopoietic stem cell gene therapy in adenosine deaminase severe combined immune deficiency

scientific article published on April 7, 2011

Integration profile of retroviral vector in gene therapy treated patients is cell-specific according to gene expression and chromatin conformation of target cell

scientific article

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia

scientific article published on 01 May 2019

Purine metabolism, immune reconstitution, and abdominal adipose tumor after gene therapy for adenosine deaminase deficiency.

scientific article published on 29 April 2011

Role of reduced intensity conditioning in T-cell and B-cell immune reconstitution after HLA-identical bone marrow transplantation in ADA-SCID.

scientific article published on 11 May 2010

T-cell defects in patients with germline mutations account for combined immunodeficiency

scientific article published on 25 September 2018

T-cell suicide gene therapy prompts thymic renewal in adults after hematopoietic stem cell transplantation.

scientific article

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

article

The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment

scientific article published on 27 December 2015

Update on gene therapy for adenosine deaminase-deficient severe combined immunodeficiency.

scientific article