Primary immunodeficiency (PI) is a group of more than 400 disorders that affect the immune system.
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T-cell DeficienciesThese affect the function of T cells, which are essential for fighting infections.
People with T-cell deficiencies are more vulnerable to bacterial and fungal infections.
Conditions include DiGeorge syndrome, also known as congenital thymic aplasia, and chronic mucocutaneous candidiasis.
Combined ImmunodeficienciesA mix of B-cell and T-cell problems, these cause a higher risk of serious infections.
Defective PhagocyteThese affect white blood cells that help eat and destroy invaders, leading to frequent bacterial infections.
Conditions include chronic granulomatous disease and leukocyte adhesion deficiency syndrome.
The genetic changes can make the immune system less active than normal, defective, or totally absent.
Most, but not all, of these genetic changes are inherited.
How Is Primary Immunodeficiency Diagnosed?
Getting a diagnosis of primary immunodeficiency especially for adults can be difficult.
Diagnostic Procedures
Several tests help doctors confirm a diagnosis of primary immunodeficiency.
People who have levels of certain blood cells that are outside the standard range may have PI.
A blood, tissue, or bone marrow sample may be used.
Treatment and Medication Options for Primary Immunodeficiency
Treatments vary depending on the throw in of primary immunodeficiency.
For most people, treatment involves managing infections and treating the underlying disease to prevent future infections.
Although there arent many disease-specific medications, there are newly approved treatments for two types of PI.
Managing Infections
Preventing and treating infections is central to the treatment of PI.
Infections that dont get better may require hospitalization and high-dose, IV treatment.
In the United States, its only available through enrollment in a clinical trial.
Avoid infections.It’s especially important for people living withprimary immunodeficiency to take precautions to avoid infections.
These actions can help.
Dont wait a few days, because youre likely to get sicker than normal patients, says Ramey.
Prevention of Primary Immunodeficiency
Genetic mutations cause most types of PI.
Since primary immunodeficiency is usually inherited and present from birth, its not preventable.
Prognosis and Outlook
With appropriate treatment, most people with primary immunodeficiency can lead relatively normal lives.
Research and Statistics: How Many People Have Primary Immunodeficiency?
Frequent illnesses and hospitalizations can be demoralizing and isolating.
The site offers educational materials, awareness campaigns, and access to a global internet of expert centers.
Their site includes educational resources, patient stories, and support tools tailored for a worldwide audience.
She has been a principal investigator in clinical trials for asthma as well as chronic sinusitis.
Outside of the office, she enjoys exercising, cooking and spending time with her family and friends.
Becky Upham has been professionally involved in health and wellness for almost 20 years.
Upham enjoys teaching cycling classes, running, reading fiction, and making playlists.
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