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There are effective treatment options for most patients with primary immunodeficiency (PI), 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 (IGIV).
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 PI patients using IVIG for regular antibody replacement therapy receive infusions every 3-4 weeks.
Hematopoietic stem cell transplantation
Hematopoietic stem cell transplantation is the process in which stem cells from a normal donor are given to a PI 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 PIs 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 PIs. 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 hematopoietic 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.
Primary immunodeficiencies (PIs)
Immunodeficiency intrinsic to cells and tissues of the immune system, and not due to another illness, medication or outside agent damaging the immune system. Intravenous immunoglobulin (IGIV) therapy is used to treat PIs associated with defects in humorol immunity (ie, a lack of antibody production). These include, but are not limited to, common variable immunodeficiency, X-linked agammaglobulinemia, Wiskott-Aldrich syndrome, and severe combined immunodeficiency. IGIV therapy is not effective for some types of PI, such as selective IgA deficiency or complement deficiencies.1 To date there are over 150 PIs classified by the World Health Organization (WHO).2,3
Common variable immunodeficiency
A disorder characterized by low levels of serum immunoglobulins (antibodies) and an increased susceptibility to infections. The genetic causes of the low levels of serum immunoglobulins are not known in most cases. It is a relatively "common" form of immunodeficiency, but the degree and type serum-immunoglobulin deficiency as well as the clinical course is "variable" from patient to patient.4
A PI disorder in which males are susceptible to bacterial infection, due to a mutation in the Btk gene which leads to a lack of antibody production.5 The disorder is X-linked as it is on the X chromosome, and is almost entirely limited to the sons of asymptomatic female carriers.4
An inherited defect of the immune system, caused by a mutation in the WAS gene located on the X chromosome.6
Severe combined immunodeficiency
A genetic disorder in which both B cells and T cells of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency.7
A number of conditions such as malignancies, particularly those of the haematopoietic and lymphoreticular systems, metabolic disease, malnutrition, burns or severe infection can also cause defective immune function and poor antibody response. In particular, Intravenous immunoglobulin (IGIV) therapies, are used to treat chronic lymphatic leukemia (CLL) and myeloma (MM).8 These patients may benefit from immunoglobulin replacement therapy in addition to standard treatment of their primary disease.
Immune thrombocytopenic purpura (ITP)
Immune Thrombocytopenic Purpura (ITP), is an autoimmune disease characterized by a low blood platelet count, sometimes referred to as Idiopathic Thrombocytopenic Purpura, occurs when your body's immune system destroys its own platelets, in the same way it would destroy harmful invaders such as bacteria. Platelets are important for helping the blood to clot and stop bleeding.9
Patients may experience bruising, nose bleeds, or bleeding gums when platelet counts are low.
1. Blaese RM, Winkelstein J. Patient & Family Handbook for Primary Immunodeficiency Diseases. Towson, MD: Immune Deficiency Foundation; 2007
2. International Patient Organisation for Primary Immunodeficiencies. PID info: list of some primary immunodeficiencies. Available at: http://www.ipopi.org/pid-info/list-of-some-primary-immunodeficiencies.html
3. Geha RS MD, Notarangelo LD MD, Casanova JL MD, et al. Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol; 2007; 120(4): 776-794.
4. Immune Deficiency Foundation (IDF) Web site. Patient & Family Handbook. Available at: http://www.primaryimmune.org/publications/book_pats/book_pats.htm
5. Anderson DM, Novak PD, Keith J, eds. Dorland's Illustrated Medical Dictionary. 31st ed. Philadelphia, PA: W.B. Saunders Company; 2007
6. Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics. 1954;13(2):133–139
7. National Human Genome Research Institute (NHGRI) Web site. Learning about severe combined immunodeficiency (SCID). Available at: http://www.genome.gov/13014325
8. KIOVIG Human Normal Immunoglobulin (IGIV) [package insert]. Wallisellen, Switzerland. Baxter Healthcare SA; March 2006
9. PDSA (Platelet Disorder Support Association) Web site. Available at http://www.pdsa.org/about-itp.html