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What Is Primary Immunodeficiency?

Let’s say you have a child who gets an ear infection in January. Then in March, they get an ear infection again — then another in May, another in July. It keeps happening.

At first, you write it off as bad luck, allergies or just something that your child will grow out of someday. However, this particular sequence of events happens to be the number one sign of a condition that persists well into adulthood. It’s an often misunderstood and complex condition called primary immunodeficiency disorder or PIDD. And it’s a mystery that specialists such as Rohit Katial, MD, director of the National Jewish Health Center for Clinical Immunology, are working diligently to unravel. 

“There are a lot of red flags for primary immunodeficiency disorder in terms of symptoms.  Recurring infections are a major sign,” said Dr. Katial. “Our understanding of PIDD at the genetic level is still evolving. However, the powerful new diagnostic capabilities here at our Center are paving a way forward.” 

Understanding the genetic causes behind PIDD will be a crucial step, as PIDD weakens a person’s immune system from birth. For this reason, PIDD is sometimes referred to as innate errors of immunity or IEI. However, many patients won’t know that they, or their child, have the condition until symptoms develop. And there is a lot of variation involved with PIDD. In fact, there are more than 400 types. 

Spreading Awareness

For conditions this complex, education is key. This is why National Jewish Health will be hosting an Immune Deficiency Day event on April 20, 2024. During the event, doctors from National Jewish Health and representatives from the Immune Deficiency Foundation (Opens in a new window) will present emerging trends in treatment and research. 

The event is free and just one of the ways community outreach is being used by National Jewish Health and others to spread awareness about PIDD. 

“It's really a multidisciplinary approach when it comes to treating these patients,” said Dr. Katial. “The number of factors involved makes patient education important. But then we also have to have a variety of specialists who understand the nature of the condition. Experts who have experience with it. If there's a blood cell problem, we work with hematology. If a patient has gastrointestinal manifestations, we get a GI doctor involved. So, many things can play a role when it comes to PIDD.” 

Even though PIDD can pose challenges, Dr. Katial and others have developed keen eyes for identifying symptoms of the condition early. Because PIDD can dramatically weaken the immune system, it’s important for doctors to detect it as soon as possible to limit the risk of complications. Even though PIDD is present at birth, people are not always diagnosed at a young age. In some cases, the condition may go unnoticed into adulthood.   

Steps Toward Better PIDD Treatment

Doctors and patients who understand the symptoms of PIDD are better equipped. Once PIDD is suspected, blood tests can be administered to show the levels of immune system cells. If these levels are lower than the normal count for your particular age group, you may be diagnosed with PIDD. 

 “A proper PIDD diagnosis allows us to take the first step toward giving the immune system a boost,” said Dr. Katial. “For infections, we can apply antibiotic treatments. For cases where there are defects in the antibodies, we may do things like gamma globulin replacement therapy.”

Working at the Center for Clinical Immunology, Dr. Katial and others continue to develop cutting-edge treatment regimens for patients based on new research. For more information about PIDD and how you can benefit from immunological care at National Jewish Health, visit our program page here.