Treatment of primary immunodeficiency diseases

Treatment of primary immunodeficiency diseases (PID) should be tailored to counteract the immune defect and prevent complications. Initiating treatment early in the course of the disease is essential. Prevention of infections is very important in all forms of PID. This can be achieved by reducing exposure to pathogens, with aggressive use of antimicrobial drugs, and with immunoglobulin substitution therapy. In infants with severe combined immunodeficiency, hematopoietic stem cell transplantation is the treatment of choice, and leads to permanent cure in the majority of patients. Replacement immunoglobulin is the mainstay of therapy for patients with predominantly antibody deficiencies. Autoimmune manifestations are not rare in PID. In general, their treatment should not differ from what is otherwise in use in immunocompetent individuals. Antibacterial and antifungal prophylaxis is essential in defects of phagocytosis. In addition, granulocyte-colony stimulating factor is the treatment of choice in patients with severe congenital neutropenia. Apart from combined immunodeficiencies, hematopoietic stem cell transplantation can be considered also in the treatment of severe phagocytes defects and of immunodeficiency with immune dysregulation.