Ospedale San Raffaele

The Unit comprises of a highly specialized team with a long-standing experience in the diagnosis, research and cure of patients affected by genetic diseases.

The main focus is on paediatric patients with rare immunodeficiencies. A high-quality standard of care is provided and innovative therapies are targeted for their specific conditions. The aim is to characterize the immunological and the genetic bases of the defects in patients and follow their evolution after standard care or definitive treatments have occurred, including hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy. These studies are the basis of an innovative, targeted and patient-centred therapeutic program.

The allogeneic and autologous, including gene therapy, transplantation program is part of the San Raffaele Stem Cell Program. A gene therapy program is ongoing, in collaboration with San Raffaele Telethon Institute for Gene Therapy (Sr-TIGET). The program is treating specific primary immunodeficiencies such as adenosine deaminase deficiency (licenced by GSK, under EU approval) and Wiskott-Aldrich syndrome (under clinical trial and named patient program) and developing preclinical gene therapies for other immunodeficiencies such as CGD, SCID-X1, CD40L deficiency and RAG deficiency.