Jornal de Pesquisa de Imunodeficiência Primária e Adquirida

Gene Therapy in Primary Immunodeficiencies

Ines Rosinha, Laura Costa, Mara Pinto, Natalia Barbosa and Patricia Rosinha

Gene Therapy in Primary Immunodeficiencies

Primary immunodeficiencies (PIDs) result from inherited mutations in genes involved in the production, function or survival of specific elements of the immune system (T, B, NK lymphocytes, neutrophils, antigen-presenting cells). Knowing that these elements derive from pluripotent hematopoietic stem cells, it has been tried to use allogeneic hematopoietic stem cell transplantation (HSCT) as an alternative for patients with a PID, which has proven to be an effective  therapeutic approach leading to immune restoration.