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What Are Primary Immunodeficiency Diseases? What You Need to Know


Primary immunodeficiency diseases globally affect over six million people. Together, they make up a group of more than 300 rare disorders.

Most people have never heard of PIDDs before. This is because they are relatively rare, currently affecting about 500,000 people in the United States.

But that doesn’t mean these chronic diseases should be ignored. They can become debilitating, costly, and even deadly for anyone that suffers from one.

But don’t worry, we’re going to answer your question, “what are primary immunodeficiency diseases,” and go over what to look out for. By the end of the article, we’ll know how to identify a PIDD and what to do next if we think a PIDD is affecting our daily lives.

What Are Primary Immunodeficiency Diseases?

Primary immunodeficiency diseases (PIDDs) are a group of rare, hereditary disorders that negatively impact our immune system.

They’re chronic, meaning they last for a long time. They also include a variety of disorders that can make our bodies more susceptible to infections.

Note that PIDD is not an autoimmune disease. Autoimmune diseases affect our body’s own cells, while primary immunodeficiencies involve problems with our immune system.

Immune deficiency disorders are either the result of a full or partial impairment of the immune system. And sometimes, they can be severe or even fatal if they aren’t correctly managed, depending on the severity of the illness.

Primary Vs. Secondary Immunodeficiencies

Before we discuss the different types of PIDDs, let’s take a look at the differences between primary and secondary immunodeficiency. Immune deficiency disorders are either primary or secondary by nature.

Here are the key differences:

Primary Immunodeficiency is a disorder that we’re born with. They’re often the result of genetic defects. It’s considered a primary immunodeficiency when our body doesn’t produce enough antibodies or T cells to fight infection.

Secondary Immunodeficiency is an acquired disorder. This means that an environmental factor has compromised our immune system. Essentially, anything that weakens your immune system can lead to a secondary immune deficiency.

Common Immunodeficiencies

In the US, the most common IDD is common variable immunodeficiency (CVID). It’s the most frequently diagnosed of all immune deficiencies. The disease affects antibody production.

CVID is also the most common primary immunodeficiency and includes symptoms like:

  • Breathing issues
  • Chronic coughing
  • Ear infections
  • Sinus infections
  • Lung infections
  • Upset stomach
  • Weight loss

Rare Immunodeficiencies

The most prevalent of all severe IDDs is acquired immunodeficiency disease (AIDS). AIDS is caused by the human immunodeficiency virus (HIV). 

AIDS can be deadly, carrying symptoms such as:

  • Recurring fevers
  • Night sweats
  • Extreme weight loss
  • Extreme fatigue
  • Swelling of lymph glands
  • Gastrointestinal issues
  • Painful body sores

Other rare immunodeficiencies include:

  • Caspase Eight Deficiency State (CEDS)
  • Leukocyte Adhesion Deficiency (LAD)
  • Severe Combined Immunodeficiency (SCID)
  • Wiskott-Aldrich Syndrome (WAS)
  • XMEN Disease
  • Cancer (Tumors)
  • Diabetes (Type I and II)

What Causes a Primary Immune Deficiency?

PIDDs occur when the immune system is not functioning correctly. They are caused by genetic mutations in the genes that control our immune system.

In 50-60 percent of PIDD cases, they relate to B lymphocytes (B cells) defects. These immune system cells make specified proteins on the body called antibodies. 

The immune system uses antibodies to destroy germs (disease-causing agents) such as bacteria and viruses.

PIDDs affect distinct components of our innate and adaptive immune systems. They’re often classified by which parts of our immune system they affect such as:

  • T and B Lymphocytes – Produce antibodies and destroy foreign cells
  • Neutrophils – Destroy bacteria and viruses
  • Phagocytes – Ingest and kill microorganisms
  • Dendritic Cells – Present antigens to the adaptive immune system
  • Complement Proteins – Kill bacteria and identify foreign cells
  • Natural Killer Cells – Kill tumor cells and virally infected cells

When affected by a PIDD, these bodily components may not work correctly. And sometimes, they may not function at all. As a result, our immune system doesn’t function properly. This leaves us susceptible to infections and other health issues.

What Are the Symptoms of PIDDs?

For many, the starting signs of a primary immune deficiency are repeating infections that are difficult to treat. They also may take an unusual amount of time to heal.

Other early signs of a PIDD include:

  • Enlarged spleen 
  • Swollen lymph nodes
  • Weight loss or poor growth
  • Antibiotics resistance (Requiring multiple rounds to treat an illness)
  • Genetic history of primary immunodeficiency

Developing a PIDD can also increase our risk of developing other complications later in life. For example, some people may develop certain cancers or autoimmune disorders.

How Are Primary Immunodeficiencies Diagnosed?

If you think you have PIDD, contact your doctor right away if there are signs of fever or unusual infection. This is critical to avoid adverse events.

If the condition persists, gets worse, or keeps recurring, please see a doctor for a diagnosis. Early diagnosis and treatment are vital for preventing severe future health problems.

There isn’t a singular test to diagnose all PIDDs. Instead, doctors will take a complete medical history and conduct a physical exam. They will also order specific tests to look for infections, antibodies, and other signs of immunodeficiency.

Some of the most common tests used to diagnose PIDDs include:

  • Blood Tests – To measure the number and function of immune cells
  • Genetic Tests – To identify immune system abnormalities
  • Flow Cytometry – To examine immune system cells
  • Chest X-Ray – To check for evidence of pneumonia 
  • CT Scan – To check for evidence of sinusitis or other sinus infections

How to Treat a Primary Immunodeficiency Disease

Treatment often depends on the type of PIDD we suffer from. But the primary goal of a PIDD treatment plan is to manage current infections and prevent future illness.

Doctors may prescribe the following PIDD treatments:

  • Antibiotics – To prevent or treat bacterial infections
  • Antivirals – To help us recover from viral infections
  • Immune Globulin – To support healthy immune system function

In rare cases, some people may require a stem cell transplant. Doctors use this treatment to replace defective or missing immune system components. In other rare cases, surgery may be needed to treat complicated infections.

Contact Blue Sky MD Health for Exceptional Health Care

So, what are primary immunodeficiency diseases? PIDDs are rare, genetic disorders that compromise our immune system. They’re chronic and include over 300 disorders that make our bodies vulnerable to infection.

If you think you have a PIDD, contact your doctor for help. This is critical to avoid long-term damage to your health. Contacting a doctor could even stop PIDD from causing your body to develop cancers or autoimmune diseases.

At Blue Sky MD Health, we treat everything from minor ailments to chronic illnesses and mental health conditions. Even if you don’t think you’re sick, it’s important to detect disease early so we can help you manage a chronic, debilitating illness like PDD.

We’ll always take the time to listen to you and care for your specific needs. Don’t wait until you’re left struggling to fight an illness. Contact us today for help!

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