Primary immunodeficiency diseases as models for the study of the immune system

Final Report Summary - PIDIMMUN (Primary immunodeficiency diseases as models for the study of the immune system)

The study of human monogenic diseases of the immune system is of importance because it contributes to identify key molecules involved in the function of the immune system as well as in contributing to the medicine of these severe conditions. In this respect, our project has contributed over the last 60 months in identifying a number of genetic defects that control the repair of DNA in lymphocytes, the mechanisms by which lymphocytes kill target cells, the mechanism controlling survival of lymphocytes, auto immunity and inflammation. Also the potential therapeutics of severe forms of PID are explored have been tested such as gene therapy of severe combined immunodeficiency X1 for which long term (> 15 years) assessment of efficacy helps to understand the dynamics of T lymphocytes differentiation and survival. In addition description of CTPS1 deficiency led to identify a new potential target for immunosuppressive therapy, a project that is now pursued with the help of a Poc-ERC funding (GRANT 680465 ERC-2015-Poc "SAFEIMMUNOSUPPRESS")

Final Report Summary - PIDIMMUN (Primary immunodeficiency diseases as models for the study of the immune system)

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