What are the symptoms and warning signs of Primary Immunodeficiency?

While the symptoms of primary immunodeficiency vary among people and specific disease types, there are some common warning signs. 

PI warning signs in children

If your child has two or more warning signs, talk to your doctor about the possibility of an underlying Primary Immunodeficiency.

1. A family history of primary immunodeficiency (see also PI warning signs in adults)
2. Failure to thrive (lack of weight gain or normal growth in an infant)
3. Two or more cases of pneumonia within 12 months
4. Four or more new ear infections within 12 months
5. Two or more serious sinus infections within 12 months
6. Two or more months of antibiotic treatment with little improvement
7. Recurring deep skin or organ abscesses (pocket of pus)
8. Persistent fungal infection on the skin or oral thrush (a yeast infection that creates raised, creamy white sore patches in the mouth)
9. Need for antibiotics administered by IV (intravenous) to clear infections
10. Two or more deep-seated infections including septicemia

This list is adapted from the 10 Warning Signs of Primary Immunodeficiency developed by the Jeffrey Modell Foundation (info4pi.org).

PI warning signs in adults

If you or someone you know have two or more of the following symptoms, talk to a doctor about evaluation and testing for a possible Primary Immunodeficiency

1. A family history of primary immunodeficiency (see also PI warning signs in adults)
2. Chronic diarrhea with weight loss
3. Recurrent need for intravenous (IV) antibiotics to clear infections
4. Two or more new sinus infections within 12 months, in the absence of allergy
5. Two or more new ear infections within 12 months
6. One pneumonia per year for more than 1 year
7. Recurrent viral infections (colds, herpes, warts, condyloma)
8. Recurring deep abscesses (pockets of pus) of the skin or organs
9. Persistent fungal infection on the skin or oral thrush (a yeast infection that creates raised, creamy white sore patches in the mouth)
10. Infection with normally harmless tuberculosis-like bacteria

This list is adapted from the 10 Warning Signs of Primary Immunodeficiency for Adults developed by the Jeffrey Modell Foundation (info4pi.org).

Non-infectious warning signs of IEI and PI

Recent advances in gene sequencing have broadened the discovery and understanding of primary immunodeficiency. While patients may have an increased susceptibility to infections, they can also have immune dysregulation or autoimmunity.

Immune deficient means the immune system isn’t as capable of protecting the body against infection as it should be. Autoimmunity is when the immune system attacks normal or healthy parts of the body. Immune dysregulation refers to patients who may have both of these problems.

Other possible signs of PI may include:

• Excessive inflammatory responses
• Autoimmunity, especially cytopenias
• Fatigue
• Hearing loss
• Arthritis
• Atopic disorders (such as eczema and asthma)
• Severe allergic reactions
• Malignancy
• Digestive problems

Consult your physician if you are experiencing health issues.