Signs and Symptoms of PID
Recurrent and Unusual Infections
More frequent infections than normal, such as frequent ear, sinus, lung (pneumonia), or skin infections.
Infections that last longer than expected or are difficult to treat, sometimes requiring intravenous antibiotics.
Recurrent deep abscesses or organ infections, including those in the liver or lungs.
Signs in Adults and Children:
Two or more ear or sinus infections per year that aren't explained by allergies.
One or more episodes of pneumonia per year for more than one year.
Multiple courses of antibiotics with little effect.
What are oral manifestations of PID?
Recurrent and severe gum disease (periodontitis), sometimes aggressive enough to cause early tooth loss.
Chronic or recurring mouth sores or ulcers.
Persistent thrush (oral candida infection).
Increased risk for dental cavities/caries due to changes in oral bacteria, gum disease, or reduced saliva flow.recurrent oral ulcers, gingivitis, and delayed tooth eruption.
How is PID diagnosed?
Primary immunodeficiency is diagnosed by:
Taking a detailed history of infections and family immune problems.
Performing a physical exam.
Running blood tests to check immune cell counts and immunoglobulin (antibody) levels.
Testing immune system function, sometimes by checking vaccine responses.
Using genetic testing if a specific or inherited disorder is suspected.
A specialist may coordinate further testing if initial screens are abnormal.
Other Warning Signs?
Chronic diarrhea with weight loss, or persistent digestive symptoms such as cramping, nausea, or loss of appetite.
Delayed growth, poor weight gain, or failure to thrive in infants or children.
Autoimmune symptoms such as anemia, cytopenias, arthritis, or type 1 diabetes.
Persistent fungal infections (like thrush) on skin or in the mouth.
A family history of diagnosed primary immunodeficiency.
What treatment is available for PID?
The current treatment for primary immunodeficiency disorder (PID) is tailored to the specific type and severity of the condition, but generally involves managing infections, boosting immune function, and—as advances allow—correcting the underlying immune defect.
Common Treatment Options
Immunoglobulin (Ig) Replacement Therapy: Most commonly used for antibody deficiencies, Ig therapy involves regular intravenous (IVIG) or subcutaneous (SCIg) infusions of antibody proteins that support the immune system’s ability to fight infection. This therapy is typically administered every few weeks or weekly, depending on the formulation, and is widely available in Canada at no cost to the patient.
Antibiotics and Antimicrobials: These are used to rapidly treat and sometimes prevent infections. Some individuals may require ongoing or long-term prophylactic antibiotics to avoid complications from recurrent infections.
Hematopoietic Stem Cell Transplant (HSCT): Also known as bone marrow transplantation, HSCT is the only curative option for some severe or life-threatening forms of PID. It replaces the faulty immune system with healthy stem cells from a matched donor, but comes with significant risks and need for immunosuppression.
Gene Therapy: For select types of PID, gene therapy is now an investigational or emerging therapy. It involves correcting the faulty gene in a patient’s hematopoietic stem cells, which are then reinfused. Recent studies show promising results, offering an alternative to HSCT, particularly when matched donors are unavailable.
Other Treatments: Depending on the specific condition, enzyme replacement therapy and thymus transplantation are options for certain PIDs. Close monitoring and personalized treatment plans are the standard.
Supportive Care
Ongoing monitoring for autoimmune complications and malignancies related to immune dysfunction.
Avoidance of live vaccines in certain patients, as recommended by immunology specialists.
Caring for mitochondrial health offers people with PID a vital line of defense, helping to maximize immune protection and improve overall health outcomes.
These treatments enable many individuals with PID to lead full, active lives by preventing infections and, in some cases, offering the potential for immune system restoration.
Common signs of primary immunodeficiency disorder (PID) include frequent, unusual, or severe infections that are hard to clear, along with other symptoms affecting growth, blood, and the immune system’s regulation. Symptoms can be subtle or vary depending on the specific type of PID, but healthcare professionals look for certain patterns and warning signs.