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What You Need to Know About Primary Immunodeficiency

April 5, 2018

primary-immunodeficiency.jpgPrimary immunodeficiency diseases are chronic disorders in which part of the body’s immune system is missing or functions improperly. The National Institutes of Health estimates primary immunodeficiency diseases affect approximately 500,000 people in the United States alone. To make people more aware of them the Immune Deficiency Foundation promotes “Primary Immunodeficiency Awareness Month” each April.

There are more than 200 types of primary immunodeficiency diseases. They are caused by hereditary or genetic defects and aren’t contagious. Some people are born with it, but the disorders can affect anyone, regardless of age or gender. People with primary immunodeficiency disorders are susceptible to infections that, if left untreated, may be fatal.

To help make you more aware of primary immunodeficiency diseases, let’s take a closer look at them and the people they affect.

What Part of the Body do Primary Immunodeficiency Diseases Affect?

Infections associated with primary immunodeficiencies can affect many areas of the body including the:

  • lungs
  • sinuses
  • urinary tract
  • intestinal tracts
  • throat
  • ears
  • brain
  • spinal cord

What is the Most Commonly Diagnosed Primary Immunodeficiency?

Common Variable Immune Deficiency is one of the most frequently diagnosed primary immunodeficiencies— especially in adults. It is characterized by low levels of antibodies that your immune cells make to fight off bacteria, viruses and other harmful invaders.

While Common Variable Immune Deficiency is thought to be due to genetic defects, the exact cause of the disorder is unknown in the large majority of cases. Typical symptoms are recurrent infections involving the ears, nasal sinuses, breathing tubes and lungs.

At What Age do Primary Immunodeficiency Diseases Develop?

While most primary immunodeficiency disorders present in childhood, they can develop later in life. Some primary immunodeficiencies present in people who are in their 20s or 30s.

Warning Signs of Primary Immunodeficiency Disorders

The Jeffrey Modell Foundation created the 10 Warning Signs of Primary Immunodeficiency to assure earliest possible diagnosis. They include:

  • Family history of Primary Immunodeficiency
  • Two or more sinus infections within a year
  • Two or more months on antibiotics with little effect
  • Two or more pneumonias in one year
  • Failure of an infant to gain weight or grow normally
  • Recurrent, deep skin or organ abscesses
  • Persistent thrush in mouth or fungal infection on skin
  • Need for intravenous antibiotics to clear infections
  • Two or more deep-seated infections

How is a Primary Immunodeficiency Diagnosed?

If your doctor suspects a primary immunodeficiency disorder, a series of tests will be ordered. The 4 Stages of Testing include:

  1. Physical examination
  2. Specific antibody responses
  3. Candida and Tetanus skin tests
  4. Enzyme measurements

With proper medical care and treatment, many people with primary immunodeficiency diseases are able to live healthy and independent lives. The Immune Deficiency Foundation will continue to work to add various tests to newborn screening panels. The goal is to diagnose primary immunodeficiency in its earliest stages.

If you’re looking for more information, talk to your doctor. You can also download our free guide “From Crib to College.” It is loaded with answers to some of the most commonly asked questions parents ask their pediatricians about their kids.

From Crib to College - Caring for Your Little Ones