Primary immunodeficiency (PI) or primary immunodeficiency diseases are disorders in which part of the immune system or natural defense system is missing or does not function properly. PI is not visible and it affects any age, race or sex. For people living with PI, infections may not go away or can come back often, even with the use of medications. Infections may be common, severe, long-lasting, hard to cure and may become life threatening.

The basic tests performed when a primary immunodeficiency is suspected include gathering detailed medical and family history, physical exam, blood and immune globulin level tests and response to vaccines to test immune system competency.

Primary Immunodeficiency is an acquired disease and is not contagious. It may be caused by environmental exposures, trauma, medications, etc. Some people with PI have relatives with the same disorder. Sometimes the parents of the patient carry the gene, which puts other siblings at risk of having the same problem. Other times the person may develop the defective gene spontaneously or due to some environmental exposure.

There are a variety of treatment choices for immunodeficient patients. At a minimum, the recurring infections can be treated with antibiotics. These can help prevent damage caused by chronic illness, improving the chances for long-term survival while enhancing the quality of life.

Another important treatment intervention is immunoglobulin or IVIG therapy. IVIG works by replacing the antibodies that the body cannot make on its own, or for those with abnormally functioning antibodies. IVIG is now an accepted treatment protocol for a range of Primary Immunodeficiency diseases.

In other cases, bone marrow transplants, gene therapy, or other alternative treatments may be appropriate.

There are several treatment options that can help people diagnosed with primary immunodeficiencies (PI) to live normally and live longer. Different types of PI are treated differently. Bone marrow transplantation (BMT) is a possible cure for a number of primary immunodeficiency diseases. However, not everyone is a candidate for bone marrow transplant, because, for a BMT to be successful, there must be a close biological match between the donor and the recipient. Serious health risks are also associated with the procedure. Recipients who have weakened immune systems are at risk of developing graft-versus-host disease after surgery. Some people may experience transplant rejection- in which the bodys immune system attacks the donated organ.

For the most common type of PI, antibody deficiencies, lifelong immunoglobulin replacement therapy is the standard treatment. The two common methods of administration for immunoglobulin are subcutaneous(Sub-Q Ig) and intravenous (IVIG). Intravenous immunoglobulin (IVIG) can be given in large, infrequent doses, it is fast-acting, and it avoids the side-effects associated with large subcutaneous injections.[1]

The useful effects of IVIG for the preventative treatment of patients with primary immunodeficiency syndromes are well established. Appropriately treating PI with IVIG preserves organ function, improves quality of life, prevents infection-related death and increases lifespan.[2] The long-term goal of IVIG therapy is to render the patient infection free, to the greatest extent possible.[2]

References:

1. When The Bodys Defense Are Missing #8211; Primary ImmunoDeficiency: National Institute of Child Health Human Development, National Institute of Health.

2. Eight Guiding Principles for Effective Use of IVIG for Patients with Primary Immunodeficiency: American Academy of Allergy Asthma Immunology.

The IVIG dose is dependent on many factors including: weight of the patient, physcial condition and how well the IVIG treats or prevents symptoms. A starting dose of 400-600mg/kg every 3-4 weeks is recommended[2]. The overwhelming data supports the use of higher doses of IVIG for the treatment of primary immunodeficiency [3].

References:

2. Eight Guiding Principles for Effective Use of IVIG for Patients with Primary Immunodeficiency: American Academy of Allergy Asthma Immunology.

3. Eijkhout HW, van Der Meer JW, Kallenberg CG, Weening RS, van Dissel JT, Sanders LA, et al. The effect of two different dosages of intravenous immunoglobulin on the incidence of recurrent infections in patients with primary hypogammaglobulinemia. A randomized, double-blind, multicenter crossover trial. Ann Intern Med 2001; 135:165-74.

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