signs of primary immunodeficiency

Top 8 Signs of Primary Immunodeficiency

Early Warning Signals

Our immune systems are designed to keep us healthy and protect us from viruses, bacteria and other pathogens. But what happens if the immune system isn’t functioning properly? You may end up with chronic infections or illnesses that are hard to shake. A major contributor to immune system dysfunction is a category of conditions called primary immunodeficiencies. Below, we’ll take a closer look at what primary immunodeficiency is, the top signs to watch out for and some recommended treatments from health professionals.

What is Primary Immunodeficiency?

Primary immunodeficiency (PI) is made up of a group of over 450 different rare and chronic conditions characterized by an immune system that is not functioning correctly or may even be missing parts required for optimal function. The varieties of primary immunodeficiencies can range in terms of severity. In some cases, they can be so mild that individuals may not know they have one until they reach adulthood, whereas others show up shortly after birth. In some cases of PI, individuals have immune cell deficiency, which can negatively impact the body’s ability to ward off infections. Before getting into the signs and symptoms of PI, it’s important to have an understanding of the system.

The immune system is made up of several important organs, types of proteins called antibodies, white blood cells, and other chemicals. When the immune system is properly functioning, all of these components work synergistically to protect our bodies from bacteria, fungi, parasites and viruses that can cause infections, illness and some diseases.

The immune system is complex and intelligent, and when it is functioning properly, it can differentiate between your cells and foreign pathogens that can cause illness or infection. Its primary role is to activate immune cells and mount an immune response when it detects these pathogens. In doing so, your body can fight off sickness and stay healthy. The immune system is made up of the following:

  • Thymus.
  • Spleen.
  • White blood cells.
  • Lymph nodes.
  • Bone marrow.
  • Tonsils and adenoids.
  • Stomach and colon.
  • The skin.
  • Mucous membranes.

What Are The Top Signs of Primary Immunodeficiency?

Since PI impacts the immune system, most of the signs of this condition will be related to the severity, frequency and type of infections a person contracts, though there are other signs to watch for.

1. Recurrent Infections

These are infections that continue to reoccur over and over again, despite treatment. They can include:

  • Thrush.
  • Skin infections.
  • Meningitis.
  • Bronchitis.
  • Pneumonia.
  • Sinus infections.
  • Ear infections.

2. Persistent Infections

These infections last longer than the average illness and may not clear up even with treatment.

3. Treatment-Resistant Infections

Individuals with PI may not respond to normal courses of treatments for infections, including regular antibiotics. They may require IV antibiotics to clear infections.

4. Unusual Infections

If you have PI, you may get infections from unusual organisms that might not cause illness in those with fully functioning immune systems.

5. Swollen Organs

PI may cause swelling of organs in the immune system, including the lymph nodes, spleen or liver.

6. Inflamed Blood Vessels

Some individuals with PI may experience vasculitis, which is inflammation of the blood vessels.

7. Autoimmune Conditions

People with PI may be more prone to autoimmune diseases such as inflammatory bowel disease (Crohn’s or colitis). This condition may cause chronic diarrhea, which is something to watch for if you think you may have PI.

8. Failure to Thrive

Some infants with PI may present with failure to thrive, which is characterized by a lack of growth and weight gain.

If your doctor suspects your chronic infections or other symptoms are a sign of primary immunodeficiency they may order blood tests or run labs to rule out other causes.

Treatment Options for Primary Immunodeficiency

While most primary immunodeficiencies do not have a cure, there are ways to prevent illness and infection and even medications that can support immune function. Cutaquig is an immunoglobulin replacement medication that is administered through IV infusion and is recommended for adults and children over two years old with humoral immunodeficiency. Your doctor will run blood tests and lab work to determine whether you fit within this category and are a candidate for this treatment.

Other treatments your doctor may recommend can include:

  • Gene therapy–a treatment that replaces incorrectly functioning genes with ones that work.
  • Growth factors that can help increase white blood cell count to more effectively fight infections and illness, while supporting overall immune function.
  • Stem cell transplants from donors can help provide your body with functioning immune cells.
    Interferon-gamma therapy.
  • Antibiotics to prevent or treat certain infections.

In addition to treating primary immunodeficiency, you can also prevent infection and illness by taking some simple steps in your daily life. If you have been diagnosed with PI or suspect you have it, make sure that you:

  • Discuss which vaccines are safe to take. Some live vaccines are not safe for those with PI, including
  • MMR, Rubella, Chickenpox and Rotavirus.
  • Wash your hands regularly and correctly to prevent the spread of viruses or bacteria.
  • Avoid large crowds and sick people.
  • Practice good oral hygiene.
  • Stay physically active.
  • Eat a healthy diet rich in fruits, veggies and good sources of protein.
  • Practice healthy sleep hygiene–get adequate sleep every night.

While there might not be a cure for all forms of PI, there are lots of ways you can support your immune system and prevent illness. Talk to your doctor about the treatments that are best for your diagnosis.