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Primary immunodeficiency diseases (PI) are genetic conditions in which a part of our defense system is not working properly. Children with PI are at risk for an increased frequency or severity of infections. Primary immunodeficiencies are one of a group of conditions that cause immunodeficiency.
Primary immunodeficiency diseases are a direct result of a missing or dysfunctional immune component. Immune components include white blood cells, antibodies and other antimicrobial proteins. Antibody deficiencies are examples of primary immunodeficiency diseases in which children are susceptible to upper and lower respiratory infections. Primary immunodeficiencies may predispose individuals to autoimmune illnesses or cancer.
Although at first thought to be rare, more than 250 primary immunodeficiency conditions have been discovered since the Human Genome Project was completed in 2003. This international research project analyzed the physical and functional order of human genes, which determine heredity.
The main symptoms of primary immunodeficiencies are:
Some of the risk factors for immunodeficiencies include:
Children with primary immunodeficiency diseases should receive care from doctors and nurses who are specially trained to work with young patients with these conditions.
Clinical immunologists and pediatric infectious disease specialists at Riley at IU Health will review your child’s medical history with you, noting the frequency and severity of infections. They will also provide advanced testing to determine the type of primary immunodeficiency. These tests may include:
Treatment of primary immunodeficiencies depends on the type of deficiency and severity of the condition. Treatment may include:
Visit these websites to learn more about primary immunodeficiency diseases, their causes and treatment.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This resource provides more information about primary immunodeficiency diseases.
You will find a wealth of information about the many primary immunodeficiencies, their causes, diagnosis and treatment as well as support groups and doctors near you.
Riley at IU Health is participating in the United States Immunodeficiency Network (USIDNET), a multi-institutional collaborative group that is currently collecting diagnostic information and developing strategies to improve therapies for children and adults with PI.
In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.