What is PI?

Primary immunodeficiency diseases (PI) are a group of more than 400 rare, chronic disorders in which part of the body’s immune system is missing or functions improperly.^1,2,3 Infections are caused by microorganisms such as bacteria, viruses, fungi and parasites. Nearly all of us get an infection once in a while - perhaps it's a minor cold, cough, or a cut that gets infected, or it may be something more serious like pneumonia. Normally, our immune system is a complicated and very efficient collaboration between cells and proteins that work together to defend us against infection.¹ Most people recover quickly from an infection because the body's immune system defenses can usually eliminate the microorganisms that cause disease. But some of us are born with an immune system that is not able to effectively fight certain infections. PIs result when there is a defect in one or more of the components of the immune system.¹

The impact of PI

There are estimated to be more than 400 different types of primary immunodeficiency diseases, affecting approximately 500,000 people in the US.²

Types of PI may differ depending on the specific defect in the immune system, but they all have one thing in common - patients have an increased susceptibility to infection. This can include frequent infections, infections that are difficult to treat, or infections with unusual organisms. In some forms of PI, organisms that cause only mild infections in healthy people may cause severe, life-threatening infections. These are called opportunistic infections.¹

These infections can be located anywhere in the body, such as the ears, sinuses, lungs or intestinal tract.¹ Besides being painful, frightening and frustrating, these constant infections can cause permanent damage to the ears or to the lungs.

 Although infections are the hallmark of PIs, they are not always the only health problem. Some PIs are associated with other immune disorders, such as anemia (reduced delivery of oxygen to tissues), arthritis, or autoimmune diseases. Other PIs involve more than the immune system; some, for instance, are associated with symptoms involving the heart, digestive tract, or nervous system. Some PIs retard growth and increase the risk of cancer.¹

What can be done?

Today, physicians realize that PIs are sometimes relatively mild. Because of this, proper diagnosis might not occur until the teenage or adult years.¹

Thanks to treatments available today, many PI diseases can be successfully managed, and some can even be cured. Many patients with PI are able to work, attend school, and participate fully in their communities.¹

Treatment for PI usually involves "replacement therapy", in which the missing or defective antibodies are provided through regular infusions of intravenous immunoglobulins (IGIV). Replacement therapy can also be given under the skin, or subcutaneously for PI.

GAMMAKED is proven effective in patients with PI. In a clinical study, patients with PI who received Gammaked were protected from severe infections and acute sinusitis.^4,5

Successfully controlling PI depends on prompt detection. Physicians, parents, and adult patients alike need to recognize when infections are more than "ordinary," so that treatment can be started in time to prevent permanent damage or life-threatening complications. Prompt diagnosis of PI has been improved over the years with advances in detection and confirmatory tests, as well as the implementation of newborn screening programs.

As soon as someone with primary immune deficiency has been identified in your family, you should check for similar symptoms in other family members so that they can be evaluated for PI as quickly as possible.

10 Warning Signs of Primary Immunodeficiency⁶

1. Four or more new ear infections within 1 year
2. Two or more serious sinus infections within 1 year
3. Two or more months on antibiotics with little effect
4. Two or more pneumonias within 1 year
5. Failure of an infant to gain weight or grow normally
6. Recurrent, deep skin or organ abscesses
7. Persistent thrush in mouth or fungal infection on skin
8. Need for intravenous antibiotics to clear infections
9. Two or more serious infections including blood infections
10. A family history of primary immunodeficiency

References: 1. IDF Patient and Family Handbook for Primary Immunodeficiency Diseases. 5th ed. Immune Deficiency Foundation. Towson, MD. 2013:2-151. http://primaryimmune.org/wp-content/uploads/2016/03/IDF-Patient-Family-Handbook-5th-Edition-2015-Reprint-Web.pdf. Accessed July 27, 2021. 2. National Institutes of Allergy and Infectious Diseases. Primary Immune Deficiency Diseases. https://www.niaid.nih.gov/diseases-conditions/primary-immune-deficiency-diseases-pidds. Accessed July 27, 2021. 3. About Primary Immunodeficiencies. Immune Deficiency Foundation Website. https://primaryimmune.org/about-primary-immunodeficiencies. Accessed July 27, 2021. 4. Roifman CM, Schroeder H, Berger M, et al. Comparison of the efficacy of IGIV-C, 10% (caprylate/chromatography) and IGIV-SD, 10% as replacement therapy in primary immune deficiency: a randomized double-blind trial. Int Immunopharmacol.2003;3:1325-33. 5. GAMMAKED [prescribing information]. Ft. Lee, NJ: Kedrion Biopharma; 2018. 6. Ten warning signs of primary immunodeficiency. The Jeffrey Modell Foundation Website. http://www.info4pi.org/library/educational-materials/10-warning-signs. Accessed July 27, 2021.