If identified early, they can be treated and possibly be cured
Primary immunodeficiency diseases (PID)
Primary Immunodeficiency Diseases (PID), often referred to as inborn errors of immunity (IEI), are hereditary and genetic defects in the immune system that cause increased susceptibility to a wide range of infections. It often presents itself in the form of ordinary infection, which does not respond to treatment. Too often, physicians treat the infection with repeated prescription of antibiotics while missing the underlying cause, allowing the illness to recur and leaving the patient vulnerable to vital organ damage, physical disability, and even death.
Early diagnosis and access to appropriate treatment enable people living with PID to lead normal, productive lives whilst significantly reducing healthcare expenditure. Limited awareness of PID remains a major issue, causing the majority of patients to be diagnosed too late. Unlike other rare disorders, there are many effective treatment options for PID patients. PID affects at least 10 million people worldwide, and there are currently 200 identified PID conditions.
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PID can affect anyone, regardless of age and sex.
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PID vary in severity depending on whether one or several parts of the immune system are affected.
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Current diagnosis levels suggest that around 1 in 8-10,000 people have a genetic primary immunodeficiency that significantly affects their health.
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It is estimated that 70–80% of PID remain undiagnosed globally.
A simple and relatively inexpensive blood test, complete blood count (CBC), can identify over 95% of PID patients
At a minimum, the recurring infection can be treated with low or moderate doses of appropriate antibiotics. In at least 60% of cases, antibody deficiency is present, hence, requiring intravenous (recently subcutaneous) immunoglobulin (IVIG). This has led the World Health Organization to include (IVIG) in the list of essential medicines. These can help prevent permanent organ damage, thus promoting the patient's long-term survival while improving the quality of life. Bone marrow transplantation and gene therapy are also used for more severe disorders. Advanced treatments such as the interleukins, PEG-ADA, and gamma interferon can also help in some complex cases.
