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There are effective treatment options for most patients with primary immunodeficiency (PID), although the types of treatments differ based on the type of PI.
Antibody replacement therapy
Antibody replacement therapy, the use of IgG concentrates administered intravenously, is an important therapeutic option for patients who are unable to produce adequate amounts of antibodies. The IgG product, prepared from large pools of human plasma to assure a broad spectrum of antibodies, is known as immunoglobulin, gammaglobulin, or immune serum globulin. The intravenous preparations are known as IVIG (intravenous immunoglobulin) or immunoglobulin intravenous (IVIG).
IVIG is indicated for treatment of primary immunodeficiency diseases as well as an immunomodulatory therapy.
As a replacement therapy, IVIG does not stimulate new production of antibodies, so it must be readministered at regular intervals to maintain protective levels. Most PID patients using IVIG for regular antibody replacement therapy receive infusions every 3-4 weeks.
Haematopoietic stem cell transplantation
Haematopoietic stem cell transplantation is the process in which stem cells from a normal donor are given to a PID patient. In the past, stem cells were taken from bone marrow, but now new techniques support separation from peripheral blood and cord blood. Stem cell transplantation is commonly used with PIDs involving granulocytes, T-cell or combined T-cell and B-cell deficiencies, such as severe combined immunodeficiency disease (SCID), Wiskott-Aldrich syndrome, hyper-IgM syndromes and chronic granulomatous disease.
Gamma-Interferon, PEG-ADA, and G-CSF
Gamma-Interferon, PEG-ADA, and G-CSF are therapies derived from enzymes and proteins which target specific processes in specific PIDs. Gamma-Interferon may be used to help phagocytes kill bacteria more effectively in chronic granulomatous disease (CGD). PEG-ADA may be used in treating infants with a rare form of SCID involving deficiency of an enzyme, adenosine deaminase (ADA). G-CSF (Granulocyte-Colony Stimulating Factor) may be used with patients undergoing haematopoietic stem cell transplant or those with low numbers of granulocytes.
Gene therapy involves replacement of the defective gene with a normal copy. Although there have been positive outcomes with young patients with several of the SCID diseases, this type of therapy is still regarded as experimental.