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The University of Chicago Medicine - Comer Children's Hospital

Primary Immunodeficiency Disorders: Frequently Asked Questions

Here are answers to some questions frequently asked by parents of children who may have a primary immunodeficiency disorder:

Primary immunodeficiency disorders are a group of inherited conditions (present at birth) that affect the immune system. They are considered primary because they are not the result of (or secondary to) another illness, drug treatment or environmental factors. 

Primary immunodeficiency disorders are caused by a genetic mutation in the cells of the body’s immune system. They are not contagious; however, an infection contracted as a result of the weakened immune system may be contagious. A recurrent or unusual infectious disease is frequently the first sign of a primary immunodeficiency.

Diagnostics for primary immunodeficiencies includes a medical history, physical exam, sophisticated blood tests, bone marrow aspirate and biopsy, molecular analysis and DNA sequencing. In some cases, patients may also undergo imaging tests such as MRI or CT. Newborns are automatically screened for severe combined immunodeficiency (SCID), a life-threatening disease that occurs when a child’s bone marrow does not produce functioning white blood cells. The University of Chicago Medicine Comer Children's Hospital is working with the State of Illinois to develop a core program for evaluation of all newborns for immunodeficiency. 

Because primary immunodeficiency diseases can be difficult to diagnose, seeking the combined expertise of specialists in clinical immunology, hematology, transplant and infectious diseases may provide a more comprehensive perspective on these complex conditions. The Primary Immunodeficiency Program at Comer Children’s consists of an integrated team of experts -- all leaders in their fields -- who work together to accurately diagnose each patient and to develop the most effective care plan for their condition.

For many children with a primary immunodeficiency, symptoms are mild and the illness may never be detected or cause problems. For children with a severe primary immunodeficiency, early detection, diagnosis and treatment are critical. Immunoglobulin therapy does not cure the disease, but gives patients antibodies to fight infection. Stem cell transplant, which uses cells from a donor to help a patient create a new immune system, only is recommended for the most serious cases of primary immunodeficiency. Stem cell transplant is curative in most instances.

Scientists are exploring gene therapy -- treatment to replace the defective gene that is the basis of many primary immunodeficiency disorders. Although in an early stage for many immunodeficiency diseases, this approach is likely to be effective in the next 5 to ten years.