Primary Immune Deficiency Disorders
By Marianna Herrera, RN, BSN, IgCN, Clinical Nurse Educator - April 9, 2021

There are over 400 Primary Immune Deficiency Disorders (PIDD) recognized today. Due to medical advances as well as more specific and sophisticated research, that number will continue to grow. Despite these advancements, diagnosing a patient is still a long and complicated journey for many.

Quick PIDD Overview

The immune system is a complex network of cells and proteins that perform specific tasks aimed at recognizing and reacting against foreign material to keep one healthy. There are two different types of immune responses:

• Innate immunity: Ready-to-serve cells; no additional training to perform their functions. These responses are prominent at birth, i.e. hair, skin and mucus membranes.
• Adaptive immunity: Cells that require on-the-job training to build memory. Newborns "borrow" their mother's immunity for the first weeks of life.

Immune deficiencies may occur due to different circumstances:

• Primary: This occurs in the immune system itself, by inheritance or developed overtime.
• Secondary: The immune system is affected by an external factor such as another disease, medication such as chemotherapy or other toxins.

Being that the immune system is so complex, it is challenging to diagnose or identify when something is not working correctly, or in some cases even overworking (autoimmune). There are many different types of PIDD, but they all share one common feature, a defective function of the body's normal immune system. The presenting symptoms for PIDD can be generalized symptoms that are vague or could easily be attributed to something else. For the most part they present as an acute viral, bacterial or even fungal infection. The hallmark of PIDD is recurrent infections. They may present as unusual (caused by an uncommon organism), recurrent (keeps coming back), severe (requires hospitalization or IV antibiotics), persistent (won't clear up or clears very slowly) or familial (runs in the family). Children, especially at the age from birth to 3 years are less likely to be properly diagnosed with PIDD, due to the 'normal' presentations of symptoms as the immune system is developing. Some states may perform routine screening for newborns for early detection of genetic caused immune deficiencies. Ideally, every state should do this to be proactive in detection and early diagnosis.

PIDD can affect anyone, may be present at birth or early childhood, and can develop regardless of age or gender. It may affect a single part of the immune system or it may involve more than one component. People with PIDD are not contagious yet are subject to similar stigmas attributed to other immune deficient conditions. It is not difficult to imagine being someone who is always sick; a frequent flyer at the MD's office. It's not a fun situation for anyone. Public awareness of these conditions is essential in order that the average person or parent recognize and trust, that if something doesn't feel quite right, they are usually right. The community needs a basic knowledge of what a normal, healthy immune system looks like, and when they need to advocate to have a healthcare provider dig a little deeper, to help find their culprit. There are many factors that contribute to delayed or undiagnosed cases:

• Variable or complex presentations
• Lack of awareness
• Misdiagnosis
• Masking of symptoms with frequent antibiotic use
• Lack of family history
• Multiple physicians consulted
• Lack of physician specialized training

It could take up to 12 years on average to properly diagnose a patient with PIDD; even then, it might take a little more finesse to appropriately identify the exact form of PIDD.

Treating PIDD

After successfully hurdling diagnostic challenges, treating PIDD could make all the difference for someone to lead a productive and more normal life. There are several treatments for PIDD and they include:

• No treatment – regular monitoring and assessment
• Immune globulin replacement therapy
• Therapeutic or prophylactic antibiotic therapy
• Hematopoietic stem cell transplantation
• Enzyme Replacement
• Gene Therapy

Immune globulin replacement therapy (IGRT) is indicated in patients with either a quantitative (not enough) or qualitative (does not function properly) defect in their antibodies, causing recurrent infections. Proper diagnosis generally includes evaluation of serum immune globulins (IgA, IgA, IgM) and response to a vaccine such as Pneumovax. To test the ability to make specific antibodies, blood is drawn before giving the vaccine to measure the vaccine specific antibody levels. After vaccination, a second blood sample is drawn 4 – 8 weeks later to determine how well specific antibodies are made to these vaccines. It is important that the patient completes this second blood draw to determine the response to the vaccine within 4 – 8 week timeframe. These results provide important information about the patient's immune condition and insurance companies often review this information before approving IGRT. Once IGRT is started, it is not possible to get accurate results for these important tests without stopping Ig treatment for a few months.¹

Once someone has started on an appropriate therapy, nursing plays a huge role in any patient's life. It is imperative that nurses educate their patients as well as their family/support system, about what to expect from their treatment. Communication between the health care provider, specialty pharmacy and prescribing physician is also imperative. Reporting of any information pertaining to the therapy, tolerance, side effects or even significant improvements is essential. This works to ensure that a patient is experiencing the best expected outcomes. Some treatments, such as IVIg or SCIG, could potentially be given lifelong; it is in the best interest of a patient to have open communication across all modalities.

To provide the best patient care when infusing specialty drugs or specialized therapies, it is important that the patients' health care team is well versed in each prescribed product, including administration and treatment regimens. Certification by the Immunoglobulin National Society (IgNS) is available for both nurses and pharmacists involved in the dispensing and administration of immune globulin therapies. Not only does this help to ensure a patient has a safer infusion, it also provides for better advocacy and fosters trust and confidence in the nurse/patient relationship. These certifications assist to make pharmacists and nurses more knowledgeable, marketable and more connected to the Ig community. Active engagement in the IgNS community facilitates engagement with patients and families, as well as with patient support groups.

There are advocacy groups for health care professionals and patients. These include the Jeffery Modell Foundation (JMF) and Immune Deficiency Foundation (IDF). Both websites contain a lot of information and resources, including links for diagnosis, treatments of PIDD and links for genetics and on-going clinical trials. There are also links for support groups and extended advocacy opportunities. One of the most important resources found on this site is infection control and prevention. Nursing professionals should always discuss the significance of infection control, particularly during this current pandemic. Handwashing, social distancing and the wearing of a facial covering could make the difference between life and death for this high-risk population.

According to the Gallup Poll², Americans have rated nurses as the most ethical and honest profession every year since 2001. It is said with confidence that patients in the community greatly trust nursing advice. Help the community become aware of the many diseases that can compromise their health. Do your part in contributing, not only through education, but through our actions. Consider becoming a regular donor of plasma. It is crucial that we not only help care for these patients but that we also help ensure that these patients all have continued access to their much-needed therapies.

References

1. Lydia Saad, "U.S. Ethics Ratings Rise for Medical Workers and Teachers," news.gallup.com, Gallup, December 22, 2020,
   accessed on March 31, 2021, news.gallup.com/poll/328136/ethics-ratings-rise-medical-workers-teachers.
2. RJ Reinhart, "Nurses Continue to Rate Highest in Honesty," news.gallup.com, Gallup, January 6, 2020,
   accessed on March 31,2021, https://news.gallup.com/poll/274673/nurses-continue-rate-highest-honesty-ethics.aspx?utm_source=BenchmarkEmail&utm_campaign=NABP_e-News_-_01%2f08%2f2020&utm_medium=email