Patient & family handbook for primary immunodeficiency diseases, 6th edition. American Academy of Allergy, Asthma & Immunology.

Primary immunodeficiency: Overview of management. In: Middleton's Allergy: Principles and Practice. Are there brochures or other printed material I can have? What websites do you recommend?ĭon't hesitate to ask any other questions, as well.Are there alternatives to the primary approach you're suggesting?.I have other health problems, how do I manage them together.What treatments are available, and which do you recommend?.What tests are needed? Do these tests require special preparation?.What's the most likely cause of these symptoms?.Write down questions to ask your doctor.Īsk a family member or friend to come with you, if possible, to help you remember the information you're given.įor primary immunodeficiency, questions to ask your doctor include:.If possible, list all of the antibiotic prescriptions and the dosages you or your child has taken for the past several months. Make a list of medications, vitamins and supplements you or your child takes, including doses.Ask family members about the family medical history, including whether anyone was diagnosed with primary immunodeficiency, or if your family has babies or children who died of unknown causes.Bring copies of records from hospitalizations and medical test results, including X-rays, blood test results and culture findings.Write down symptoms, including any that may seem unrelated to the reason for your appointment, and when they began.Currently, this treatment is used to treat only a few primary immunodeficiencies, but clinical trials are underway for many other types.ĭepending on the type of disorder, treatment may involve other therapies, including enzyme replacement therapy or transplantation of the thymus, an organ located behind the breastbone (sternum) that produces T cells. With gene therapy, there is no need to find a suitable donor, as the person's own cells are used. This type of treatment involves taking stem cells from the person with primary immunodeficiency, correcting the gene in the cells and then returning the corrected stem cells back to the person via an intravenous infusion. The treatment often requires that functioning immune cells be destroyed using chemotherapy or radiation before the transplants, leaving the transplant recipient temporarily even more vulnerable to infection. Even with a good match, however, stem cell transplants don't always work. The stem cell donor - usually a parent or other close relative - must have body tissues that are a close biological match to those of the person with primary immunodeficiency. Stem cells can be harvested through bone marrow, or they can be obtained from a placenta at birth (cord blood banking). Normal stem cells are transferred to the person with immunodeficiency, which results in a typically functioning immune system. Stem cell transplantation offers a permanent cure for several forms of life-threatening immunodeficiency. Treatment to reinstitute the immune system Test results make it possible to prepare for treatment soon after birth, if necessary. In some cases, DNA testing is done to check for a genetic defect. Samples of the amniotic fluid, blood or cells from the tissue that will become the placenta (chorion) are tested for problems. Parents who have a child with a primary immunodeficiency disorder might want to be tested for certain immunodeficiency disorders during future pregnancies. Having numbers of certain cells in your blood that are outside of the standard range can indicate an immune system defect.īlood tests can also determine if your immune system is responding properly and producing proteins that identify and kill foreign invaders such as bacteria or viruses (antibodies). Blood tests can determine if you have typical levels of infection-fighting proteins (immunoglobulins) in your blood and measure the levels of blood cells and immune system cells. Tests used to diagnose an immune disorder include:īlood tests. Your doctor will also perform a physical examination. Your doctor will ask about your history of illnesses and whether any close relatives have an inherited immune system disorder.

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