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What to Know About Primary Immunodeficiency

This article will explore primary immunodeficiency and the causes, symptoms, signs and treatment options available, like XEMBIFY, a new medicine that helps people with serious immune system problems. These issues make it hard for their bodies to fight off infections, so XEMBIFY help enable the production of functional immune cells, and effectively restores the body's ability to fight off infections.

Now, let's take a closer look at everything you need to know about primary immunodeficiency.

10 Signs of a Weak Immune System

  1. Frequent Infections: Getting sick often, with infections like colds, flu, or sinusitis.
  2. Slow Healing: Wounds or injuries take longer to heal than usual.
  3. Persistent Fatigue: Feeling constantly tired and run down.
  4. Recurrent Infections: Experiencing the same infection multiple times.
  5. Allergies: Developing allergies or experiencing more severe allergic reactions.
  6. Autoimmune Diseases: Developing autoimmune conditions like rheumatoid arthritis or lupus.
  7. Digestive Issues: Frequent stomach upsets or gastrointestinal problems.
  8. Skin Problems: Skin rashes, eczema, or persistent fungal infections.
  9. Swollen Lymph Nodes: Enlarged lymph nodes that may indicate an immune response.
  10. Unexplained Weight Loss: Losing weight without diet or exercise changes.

What Is Primary Immunodeficiency?

Primary immunodeficiency is a collection of more than 300 rare, chronic disorders that cause the immune system to not function properly. These disorders affect one or more parts of the immune system. Certain parts of the system may be missing some immune defenses, or they may not work properly. When your immune system is not firing on all cylinders, it makes those with primary immunodeficiency more susceptible to the germs that cause infections and other health problems.

Chronic Granulomatous Disease

One primary immunodeficiency disorder is chronic granulomatous disease (CGD). This disorder increases the body’s vulnerability to certain bacteria and fungi because the body’s neutrophils have a hard time producing hydrogen peroxide to fight off specific microbes, but the rest of the immune system functions as normal. Unable to ward off certain organisms, those with CGD can experience severe infections in the skin, bone, or abscesses in internal organs.

The Immune System

The immune system is your sword and shield to protect your body from invaders like germs, bacteria and fungi. In addition to the lymphatic system, spleen, bone marrow and thymus, the immune system includes:

  • White blood cells that launch immune attacks against foreign microbes.
  • Antibodies, the proteins made in response to infection or immunization and help fight infections against pathogens like bacteria or viruses.
  • Complement is another blood protein that plays a protective role in the immune system and adds to the function of the antibodies.

In common primary immunodeficiency disorders, different forms of these types of cells or proteins are missing or do not function.

Signs of Primary Immunodeficiency

Primary immunodeficiency can affect anyone. Some forms of primary immunodeficiency are so mild they go undiagnosed for years. Other cases can be identified not long after birth. Your body may clue you into undiagnosed primary immunodeficiency if you have a history of infections that differ from those of a person with a normal immune system. Your symptoms will occur more often, last longer and may be harder to treat.

Some signs of primary immunodeficiency include:

  • Family history of primary immunodeficiency.
  • Frequent or longer-lasting infections such as recurring pneumonia, ear infections, sinus infections, bronchitis or meningitis.
  • Unusual or difficult-to-treat infections.
  • Autoimmune disorders, such as lupus, rheumatoid arthritis, or type 1 diabetes.
  • Poor growth or loss of weight.
  • Multiple courses of antibiotics or intravenous antibiotics to treat infections.
  • Recurrent deep abscesses of the organs or skin.

Primary Immunodeficiency Symptoms

A primary immunodeficiency disorder usually makes itself known before the age of 20 and is more common in males. Symptoms differ depending on the specific disorder and will vary between individuals. The more common symptoms associated with primary immunodeficiency disorders include:

  • Inflammation and infection of internal organs.
  • Blood disorders, including low platelet counts or anemia.
  • Digestive problems like cramping, loss of appetite, nausea and diarrhea.
  • Delayed growth and development.
  • Enlarged spleen.
  • Swollen lymph nodes.
  • Multiple courses of antibiotics to overcome infections.
  • Developing problems after receiving a live vaccine.
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Primary Immunodeficiency Causes

Primary Immunodeficiency disorders are not contagious. In these conditions, primary means the disorder is hereditary or genetic and is not the result of the environment. Genetic defects in your DNA can be inherited from one or both parents. The mutations in your genetic coding may affect your immune system in one of three ways:

  • Parts of your immune system present in lesser quantities.
  • Parts of your immune system are defective.
  • Parts of your immune system are entirely absent.

The hundreds of primary immunodeficiency disorders are classified into six main groups based on which part of the immune system is affected:

  • B cell deficiencies. These occur in 50% to 60% of cases. B cells are a type of white blood cell that makes antibodies specific to proteins in the body.
  • T cell deficiencies. T cells are another type of white blood cell that helps protect the body from infection.
  • Combination of B and T cell deficiencies.
  • Defective phagocytes. These immune cells kill microorganisms, boost immune response and remove dead cells.
  • Complement deficiencies. Complement proteins are found in the blood and help fight infection.
  • Idiopathic. A disease of an unknown cause.

Treatments for Primary Immunodeficiency

With hundreds of primary immunodeficiency disorders out there, research is constant. Methods to improve treatment options and enhance quality of life are continuously evolving. Treatment focuses on prevention, managing infections and replacing missing or defective immune system components where medically able.

Treatment is targeted toward specific immune defects. Depending on the disorder, treatment may include:

  • Antibiotics to prevent or treat bacterial infections and manage autoimmune disease.
  • Antivirals to help recover from infections caused by viruses.
  • Immune globulin which may be given intravenously (injected into the vein) or subcutaneously (injected into the tissue layer between the skin and muscle). This treatment contains antibodies from donated human blood for immediate, short-term protection against infections.
  • Transplantation (bone marrow, stem cell, or thymus).
  • Gene therapy.
  • Surgery to manage complications from infections.

Primary immunodeficiency disorders are diagnosed with a variety of tests. These tests include blood tests to identify specific immune system abnormalities, genetic tests to find mutations in genes or flow cytometry, which uses a laser to examine samples of immune system cells.

How to Reduce Your Risk

There are some everyday activities that take off the pressure on the immune system. These activities include:

  • Proper hygiene such as washing your hands and brushing your teeth.
  • Eating healthy.
  • Being active.
  • Getting enough sleep.
  • Reducing your stress.
  • Avoiding exposure to germs.
  • Asking your doctor if there are any vaccinations you should have.

An Overview

The immune system is designed to protect you from infection. With primary immunodeficiency, your body may not be able to shield you against germs and other invaders. What happens if there are factors built into the immune system which prevent it from functioning correctly?

Those with a primary immunodeficiency disorder know the importance of taking preventative measures for their health. When the immune system cannot perform optimally, medical prevention and intervention can reduce the risk of a minor infection turning into a hospital stay.