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Treatment options for primary immunodeficiency

The overall goal in treating primary immunodeficiency (PI) is to restore a person’s immune system, allowing him or her to maintain a normal life and live longer. This requires managing all infections caused by PI with medications like antibiotics as well as treating the underlying cause of the PI to minimize or prevent severe and frequent infections and associated complications.

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Boosting the immune system

Treating an ongoing infection is important in patients with PI; however, this doesn’t address the main problem of the PI—a deficient, inadequately functioning immune system . Fortunately, researchers have made great strides over the past several decades in developing a variety of therapies to boost the immune system.

For the many types of antibody deficiency, lifelong immunoglobulin replacement therapy will be needed. Today, there are 2 common delivery mechanisms for immunoglobulin therapy—intravenous and subcutaneous.

Intravenous immunoglobulin therapy (IVIg) is delivered through a vein by a medical professional in a healthcare setting typically every 3 to 4 weeks. Subcutaneous immunoglobulin (Sub-Q Ig) therapy is infused weekly just below the skin using a small needle and an infusion pump. Typically, Sub-Q Ig is self-administered by the patient or infused by a caregiver, usually at the patient’s home.

Different types of PI diseases are treated differently. For instance, bone marrow transplantation (BMT) is a potential cure for a range of diseases, such as severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome (WAS), and leukocyte adhesion defect (LAD). Unfortunately, BMT isn’t suitable for all patients, because, for a BMT to be successful, there must be a relatively good tissue match between the donor and the recipient.

For chronic granulomatous disease (CGD), the preferred first-line treatment is gamma interferon therapy. This therapy fights viruses and stimulates the immune system.

In some PI diseases, there are insufficient white blood cells, either because they are being destroyed or because not enough are being produced. For these diseases, treatment may involve an injection of growth factors to spur the development of white blood cells.

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Evolving PI treatments

Researchers are seeking new ways to treat PIs. One treatment that can be used is stem cell transplantation. Stem cells are cells that can evolve into more specialized cells.

Another PI treatment that holds promise is gene therapy, which involves inserting healthy genes into a cell in hopes of restoring normal function. Gene therapy has been attempted with some success on an experimental basis since 1990.

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Next: Sub-Q and IV immunoglobulin therapies

Immunoglobulin therapies

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