Primary immune deficiencies

The main interest of the LLI is to define the cellular and molecular bases of immunodeficiency diseases and to develop new therapeutic approaches for these disorders.  Through research and clinical activity in this field, we have been able to contribute to the discovery of the genes responsible for immunodeficiencies (e.g. JAK3-deficiency and reticular dysgenesis) and to define important clinical features of these disorders, as well as some of the immunological mechanisms leading to disease in affected patients, with particular interest to the Wiskott-Aldrich syndrome (WAS) and adenosine deaminase deficiency (ADA-SCID).  In addition, the group has developed Moloney virus- and HIV-based gene correction strategies for X-linked SCID, ADA-SCID, WAS, and IL12Rb1 deficiency that were tested in vitro and in mouse models.  In addition, the PI has extensive experience in clinical applications of gene therapy through trials for the treatment of ADA-SCID using gamma-retroviral and lentiviral vectors.  General areas of interest include:

1. Discovery of genetic and molecular bases of new inherited disorders of immunity.
2. Investigations of the biological roles of the Wiskott-Aldrich syndrome protein (WASp)
3. Development of gene therapy approaches for inherited disorders of immunity.
    

1. Studies of genetic and immunological defects in human humoral immunodeficiency diseases.
2. Investigations of the immunological bases of autoimmune complications in WASp-deficient patients and animal models.
3. Development of gene editing strategies based on CRISPR/Cas-9- and prime editing-mediated approaches to correct models of immunodeficiency (e.g. ADA-SCID).