Primary Immunodeficiency

Diagnosis

Your doctor will inquire about your medical history, including any instances of illnesses, and whether there is a history of inherited immune system disorders among close relatives. Additionally, a physical examination will be conducted.

Tests utilized to diagnose an immune disorder include:

• Blood tests. Blood tests can assess whether you possess normal levels of infection-fighting proteins known as immunoglobulins and gauge the quantities of blood cells and immune system cells. Deviations from the standard range of certain cell counts in your blood may signal an immune system anomaly. Moreover, blood tests can evaluate the functionality of your immune system by measuring its ability to generate proteins that recognize and eliminate foreign invaders, such as bacteria or viruses, known as antibodies.
• Prenatal testing. Parents who have a child diagnosed with a primary immunodeficiency disorder may opt for testing during subsequent pregnancies to screen for specific immunodeficiency disorders. Samples of amniotic fluid, blood, or chorionic tissue are examined for abnormalities. In some cases, DNA testing is performed to detect genetic defects. These test results facilitate early preparation for treatment shortly after birth, if required.
• Flow cytometry. This test uses a specific type of laser to examine immune system cell samples.

Treatment

Management of primary immunodeficiency entails strategies aimed at preventing and addressing infections, enhancing immune function, and addressing the root cause of the immune dysfunction. Occasionally, primary immune disorders are associated with severe conditions such as autoimmune disorders or cancer, necessitating concurrent treatment for these conditions as well.

Treatment of infections

• Treating infections. Antibiotics must be used quickly and aggressively to treat infections. A lengthier course of antibiotics than is typically prescribed may be necessary for treatment. Intravenous (IV) antibiotics and hospitalization may be necessary for infections that don’t improve.
• Preventing infections. Certain individuals require prolonged antibiotic use to avoid respiratory infections and irreversible harm to their ears and lungs. Oral polio and measles-mumps-rubella vaccines, which contain live viruses, may not be administered to children with basic immunodeficiency.
• Therapy with immunoglobulins. The antibody proteins that make up immunoglobulin are essential for the immune system to combat infections. It can be placed under the skin (subcutaneous infusion) or injected into a vein via an IV line. Subcutaneous infusion is required once or twice a week, and treatment is required every few weeks.

Therapy aimed at restoring the immune system

• Stem cell transplantation. Stem cell transplantation, a potential permanent solution for various severe immunodeficiencies, involves transferring healthy stem cells to individuals with a malfunctioning immune system, enabling normal immune function. These stem cells can be sourced from bone marrow or cord blood collected at birth. For the procedure to succeed, the donor, often a parent or close relative, must be a close biological match to the recipient. Despite the compatibility, the success of stem cell transplants isn’t guaranteed. Treatment typically necessitates the elimination of existing immune cells through chemotherapy or radiation, temporarily increasing the recipient’s susceptibility to infections.
• Gene therapy. Gene therapy offers a treatment method for primary immunodeficiencies by extracting the patient’s stem cells, repairing the defective gene within these cells, and then reintroducing the corrected stem cells back into the patient through an intravenous infusion. This approach eliminates the need for a donor match since it uses the individual’s own cells. While currently applicable to only a select few immunodeficiencies, numerous clinical trials are in progress to expand its use to a wider range of conditions.