Frequently Asked Questions
About Primary Immunodeficiency (PI)

About PI


What is primary immunodeficiency (PI)?

Primary immunodeficiency, commonly referred to as PI (also primary immunodeficiency disease, PIDD and primary immune deficiency), is a condition where part or all of your immune system is either missing or not working correctly. Most primary immunodeficiencies are genetic in nature – you or your loved one did not catch it.1,2 Primary immunodeficiency is an umbrella term that encompasses nearly 300 different deficiencies of the immune system.3

According to estimates by the Immune Deficiency Foundation, there are approximately 250,000 people in the United States diagnosed with different types of PI.4,5 The National Institutes of Health estimates that there are half a million people in the United States who currently have primary immunodeficiency and are not yet diagnosed.6


Is PI different from autoimmune diseases?

Yes. Though PI can be mistaken by people who have not heard of it before for autoimmune diseases, they are different conditions. With autoimmune diseases, the immune system gets confused and attacks a part of the body.1 An example of an autoimmune disease is rheumatoid arthritis, where the immune system attacks the joints.7

Although, the abnormalities in the immune system that results in PI can also lead to autoimmune diseases.1


Is PI different from secondary immunodeficiency disease?

Yes. A secondary immunodeficiency is where an immune deficiency is caused by something other than the immune system itself and is not inherited. A secondary immunodeficiency is caused by other conditions, viral infections, or medications (like chemotherapy drugs), aging, or malnutrition.1

The most well-known secondary immunodeficiency is acquired immunodeficiency syndrome (AIDS), which is caused by the human immunodeficiency virus (HIV).1


Is PI different from PIDD?

No. PI and PIDD actually refer to the same thing – primary immunodeficiency.


What are signs of PI?

The Jeffrey Modell Foundation (info4pi.org) has developed 10 general warning signs for primary immunodeficiency.8 For infants and children they are:

  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 deep-seated infections including septicemia.
  10. A family history of PI.

For adults they are:

  1. Two or more new ear infections within 1 year.
  2. Two or more new sinus infections within 1 year, in the absence of allergy.
  3. One pneumonia per year for more than 1 year.
  4. Chronic diarrhea with weight loss.
  5. Recurrent viral infections (colds, herpes, warts, condyloma).
  6. Recurrent need for intravenous antibiotics to clear infections.
  7. Recurrent, deep abscesses of the skin or internal organs.
  8. Persistent thrush or fungal infection on skin or elsewhere.
  9. Infection with normally harmless tuberculosis-like bacteria.
  10. A family history of PI.

You may want to speak to a physician about PI if you or someone you know is affected by two or more of the above warning signs.8


How come I've only started to show signs of PI now?

Primary immunodeficiency can show itself in different ways and at different times throughout a person's life. Although PI was first identified in children, there has been a growing awareness that adults can be diagnosed with PI.1 Children born with apparently functioning immune systems can go on to develop a primary immunodeficiency disease later in adolescence or adulthood.1 Unfortunately, patients can go a long time between when they first develop symptoms of PI and when they get diagnosed. In fact, in 2007, the Immune Deficiency Foundation did a survey that showed that the average time from the onset of symptoms to diagnosis is 12.4 years in the United States.4


Why does it take so long to diagnose PI?

Because primary immunodeficiency often presents with signs and symptoms associated with other common diseases, PI often gets misdiagnosed.9 Also, low awareness of PI and its treatment by both health care professionals and the general public further contributes to the delay in accurate diagnosis.10 According to a study published by the Immune Deficiency Foundation in 2007, approximately 250,000 people in the United States have been diagnosed with different types of PI.4,5 The National Institutes of Health estimated in 2008 that there were half a million people in the United States that may have had primary immunodeficiency and were not yet diagnosed.6


Who should be tested for PI?

In addition to the 10 warning signs for primary immunodeficiency from the Jeffrey Modell Foundation (info4pi.org)8, the Immune Deficiency Foundation uses the S-P-U-R-R acronym to also help identify those who should be tested for PI.11 S-P-U-R-R stands for Severe, Persistent, Unusual, Recurrent, and Runs in the family. Specifically, you should be suspicious of any of the following traits: infections that are severe, or infections that are persistent (won't go away), or infections that are sometimes unusual (caused by an uncommon organism), or infections that are recurrent (keep coming back). Finally, you should look for cases in which all these traits run in a family.


How is PI treated?

Primary immunodeficiency may be treated in a variety of ways:

  • Antibiotics
  • Immunoglobulin (IG, IgG or Ig)* Treatment
  • Stem Cell Therapy
  • Other options may be considered for specific types of PI

To learn more about these treatments, explore the Treating PI page on this website and talk to your doctor.

*Abbreviations for immunoglobulin vary and are used interchangeably.


I think that I, or someone I know, may have PI. What should I do?

If you suspect that you or someone you know may have PI, you should speak with your doctor. If you would like more information before discussing your concerns with your doctor, please continue to explore ImmuneDisease.com.

If you need assistance locating a physician who has experience diagnosing and treating Primary Immunodeficiency, both the Immune Deficiency Foundation and Jeffery Modell Foundation have resources available to help you locate a physician.


Resources


What kinds of financial resources are available to me?

Many companies have started offering copay assistance programs. To learn more about them in detail, you can visit their specific websites. Additionally, the following websites offer guidance and copay assistance from time to time:


Are there any foundations for patients with PI?

There are two – the Immune Deficiency Foundation (primaryimmune.org) and the Jeffrey Modell Foundation (info4pi.org).


Are there any community events or conferences related to PI that I can attend?

The Immune Deficiency Foundation has a number of resources that are available for people living with PI. They have local events and every other year in June hold a national conference. The next national conference will be held in 2017 and will be attended by some of the leading experts in PI. In the off-years they hold family retreat weekends. The Immune Deficiency Foundation is available to help in many ways – register with them on primaryimmune.org.

The Jeffery Modell Foundation also has a number of resources that are available to people living with PI. Additionally, they are committed to empowering the community with "Calls to Action," which are meant to bring the global medical community together to help enhance early diagnosis with access to equal and appropriate treatments for all patients around the world. You can find out more information at http://www.info4pi.org/town-hall/calls-to-action.


Are there any places where people living with PI can contact to support one another online?

There are three places we recommend:

  1. Visiting MyIgSource.com or calling 1-855-250-5111, a rich resource where people living with PI and caregivers can get in contact with Patient Advocates.
  2. The Immune Deficiency Foundation's discussion boards. More information can be found at http://idffriends.org. IDF Common Ground also exists for teens living with PI, which can be found at http://www.idfcommonground.org/.
  3. The Jeffery Modell Foundation has an "Internet Café," where you can access their social media sites, such as Facebook, YouTube, Instagram, and Flickr, which can be found at http://jmfworld.com/internet-cafe.

Are there PI-specific support programs?

MyIgSource is a program open to all people living with PI and caregivers, regardless of treatment. MyIgSource offers a variety of support, including:

  • Patient Advocate Support – One-on-one emotional support from other people living with PI and caregivers of PI.
  • Educational Resources and Tools – Educational books, magazines, emails, tools, and more to help manage PI.
  • Insurance and Financial Support – Help understand health insurance, navigate the coverage process, and obtain financial support, including copay assistance for select Shire Ig products.
  • Nurse Advocate Support – Experienced nurses who are available to answer questions about PI and administering Shire Ig treatments. Nurse Advocates cannot provide medical advice. For medical questions, please contact your physician.

To learn more about MyIgSource, visit www.MyIgSource.com or call 1-855-250-5111 to speak with a Patient Advocate.

The Immune Deficiency Foundation (www.primaryimmune.org) also has a support section on their website, under the "Connect" tab. In this section, you can find a blog, videos from patients and caregivers, an IDF newsletter, and volunteer peer support.

The Jeffery Modell Foundation has an "Internet Café," where you can access their social media sites, such as Facebook, YouTube, Instagram, and Flickr, which can be found at http://jmfworld.com/internet-cafe.

Learn more about Association and Patient Organizations here.


I'm a caregiver for a child with PI. Where can I find resources for help on this?

MyIgSource (www.MyIgSource.com) has Patient Advocates, many of whom are parents and caregivers of those with PI, who you can speak to on the phone. MyIgSource Patient Advocates understand firsthand what it is like to have a child living with PI and the support needed. They can help provide you with not only tools and resources for understanding and managing PI, but also emotional support to help remind you that you're not alone on your journey with PI. Call 1-855-250-5111 today to speak with a Patient Advocate.

The Immune Deficiency Foundation (www.primaryimmune.org) has a wide variety of resources for living and caring for those with primary immunodeficiency at all stages of life – including infants, children, and teens.

The Jeffery Modell Foundation (info4pi.org) is a global organization devoted to early and precise diagnosis, meaningful treatments and, ultimately, cures - through clinical and basic research, physician education, patient support, advocacy, public awareness and newborn screening. There are a wide variety of resources, tools and information on the website for caregivers and those living with PI.


What can be done to raise awareness of PI?

World PI Week (www.worldpiweek.org) aims to raise awareness and diagnosis of PI on a global level. On their website, you can learn all about PI and the events that occur all across the world during World PI Week. World PI Week was founded by a variety of organizations including the Immune Deficiency Foundation and Jeffery Modell Foundation.

Additionally, the Jeffery Modell Foundation is dedicated to global awareness of PI, physician education, research, patient support and advocacy. In 2004, they created the first-ever public service advertising (PSA) campaign for Primary Immunodeficiency, to coincide with their focus of public awareness and physician education. Since then, they have continued to expand the reach of the campaign to help bring knowledge to both members of the PI community and the public. To learn more about the Jeffery Modell Foundation's PSA campaign, please visit www.info4pi.org/wjmf/psa-campaign.


Insurance


What if I'm having problems with my insurance? Are there any resources I can use?

The Immune Deficiency Foundation (primaryimmune.org) has a great handbook on how to handle insurance issues and questions. Search for the IDF Health Insurance Toolkit in the Patient Insurance Center.

For patients with commercial (private) insurance considering Shire Ig products, insurance counselors at MyIgSource (www.MyIgSource.com) can help you understand your health insurance, navigate the coverage process, and apply for financial support, including copay assistance for select Shire Ig products. To see how MyIgSource can work with your doctors and insurance companies to help you access the immunoglobulin treatment, or Ig, your physicians prescribe; please visit the MyIgSource YouTube Channel.


How do I know if my insurance plan covers my treatment?

As always, your insurer and your insurance policy can affect coverage for any drugs your doctor prescribes, including treatments that you receive on a regular basis, such as Ig. Many insurance companies have a list of prescription medications that they will cover under the benefit plan. This list is called a formulary.

It's important to know if the drugs you take are on your insurance carrier's formulary. Check the formulary by visiting your insurance company's web page, and see if the drug your doctor prescribes is listed. Also look to see if the list includes the type of drug you receive, as well as the specific brand your doctor recommends. Sometimes insurance formularies will list only some of the brands that are available for a medication.

If your brand of medication is – or is not – on the formulary, it can affect how much money you or your family will have to pay for the drug as out-of-pocket costs or copays.


Can I change my brand within my insurance plan?

When it comes to immunoglobulin (Ig) treatment, each brand of Ig is considered to be a unique treatment, because there are important differences in how each brand of these plasma-derived products is made. As a result, different brands of Ig treatment are not considered to be interchangeable (or identical), according to medical experts and the Immune Deficiency Foundation.12

Some insurance carriers have begun limiting access to specific brands of Ig, but many of these insurers also have exception policies in place that may allow continued access to the Ig brand your physician recommends.12,13


How should I talk to my doctor about my insurance restrictions?

If your insurance plan has special rules for brand-name drugs, you or your family should make sure your doctor is aware of them. For example, tell your doctor if your prescription for Ig needs to be worded in a special way to make sure you get exactly what the doctor wants you to receive. Depending on the state you're in, the doctor may need to write "Dispense as written (DAW)," "Brand necessary," or other statements on the prescription to ensure that the pharmacy dispenses the exact brand of Ig that was prescribed.


I have additional questions about my insurance. Are there any other resources I can read?

The Patient & Family Handbook for Primary Immunodeficiency Disorders, developed by the Immune Deficiency Foundation, devotes an entire chapter to health insurance. A copy of the 5th edition of the handbook can be downloaded at http://primaryimmune.org/publications/patient-family-handbook.


I'd like to speak to a person who has experience about PI and insurance questions. Is there a number I can call?

MyIgSource, a program designed to those living with PI and their caregivers on their PI journey, provides insurance assistance for Shire Ig treatments, as well as emotional and Shire treatment-related support and resources. If you're considering Shire products, call 1-855-250-5111 to speak to insurance counselors, who can help you understand your health insurance, navigate coverage process, and obtain financial support, including copay assistance for select Shire Ig products for patients with commercial insurance. You can also visit myigsource.com and enroll to and access support, resources, and tools to help you manage PI. MyIgSource is open to all Primary Immunodeficiency (PI) patients and caregivers.