SUNDAY, March 9, 2003 (HealthDayNews) -- It afflicts more children than leukemia and lymphoma combined and can have serious, recurrent and life-threatening consequences.
But all too often, primary immunodeficiency is never diagnosed.
Primary immunodeficiency -- or PI -- includes more than 70 conditions that can be traced to a genetically faulty immune system. Those conditions can range from chronic sinusitis to "Bubble Boy Disease," which leaves the immune system with little or no defenses again infections.
Cases of primary immunodeficiency occur much more often than even pediatricians realize, federal health authorities say, because the symptoms often mimic common childhood ailments such as ear and sinus infections, bronchitis and pneumonia.
However, a new campaign aims to narrow the knowledge gap with mailings to 100,000 U.S. pediatricians describing primary immunodeficiency in detail. The mailings also offer the warning signs for the often-overlooked disease that, if not diagnosed, can lead to serious health problems later in life.
The National Institutes of Health (NIH) and the Jeffrey Modell Foundation, which teamed up to launch the campaign, say in serious cases of primary immunodeficiency, quick diagnosis and treatment -- sometimes as early as 3 months of age or younger -- is crucial.
"The presentation for this illness is to show up with an infectious disease, which is one of the infectious diseases children often have. So, there's a tendency to say Johnny has what everybody else has," says Dr. Josiah Wedgwood, an immunodeficiency and immunopathology specialist at the National Institute of Allergy and Infectious Diseases.
PI afflicts about 500,000 Americans, mostly children, experts say, but many cases remain undiagnosed or are diagnosed only after patients become extremely ill or chronically debilitated, sometimes with life-threatening conditions.
Each type of primary immunodeficiency has somewhat different characteristics and symptoms, depending on the parts of the immune defense system that are compromised. Some deficiencies are deadly; others are mild. But they all share a common trait, experts say: They may pave the way to multiple infections.
Children who have primary immunodeficiency suffer one infection after another. Ear, sinus and other infections may not improve with treatment as expected, but keep recurring. Pneumonia is a common PI-based infection. Besides being "painful, frightening, and frustrating," the constant infections can "cause permanent damage to the ears or the lungs," according to the National Institute of Child Health & Human Development.
In severe forms of primary immunodeficiency, germs which cause only mild infections in people with healthy immune systems may cause severe or life-threatening infections.
The good news is that most types of primary immunodeficiency can be diagnosed with a simple blood test, the NIH says. A child should be tested for PI if two or more of these warning signs are evident:
- eight or more new ear infections within a year;
- two or more serious sinus infections within a year;
- two or more months on antibiotics with little effect;
- two or more cases of pneumonia within a year;
- failure of an infant to gain weight or grow normally;
- recurrent deep skin or organ abscesses;
- persistent thrush in the mouth or elsewhere on the skin after age 1;
- a need for intravenous antibiotics to clear infections;
- two or more deep-seated infections such as meningitis, cellulitis or sepsis;
- A family history of immunodeficiency.
The most serious immunodeficiencies become apparent almost as soon as a baby is born, and many others are discovered during the first year. But milder forms may not show up until adulthood, and some never produce symptoms.
Dr. Lisa Kobrynski, a pediatric immunologist at the Emory University School of Medicine in Atlanta, says many children with primary immunodeficiency who come to the Emory clinic have already seen five or six specialists who failed to diagnose the problem.
"Some of them have serious lung disorders before coming to us," she says. "Some of them die from an infection or illness. And then, only when there's further investigation or an autopsy is it recognized that what they had was an immune deficiency."
Once primary immunodeficiency is diagnosed, treatments include antibiotics to combat infections; gammaglobulin, which contains antibodies some primary immunodeficiency patients do not produce naturally; interleukins, hormone-like substances that stimulate the growth of blood cells important to the immune system; enzyme-replacement therapy; and transplants of bone marrow, the source of infection-fighting white blood cells, health officials say.
More recently, specialists have turned to transplanting stem cells, which continually give rise to fresh blood cells, from the umbilical cords of healthy infants.
Researchers have also reported success using still-experimental gene therapy, in which healthy versions of missing or malfunctioning genes replace defective ones to restore normal function of the immune system.
With advances in treatment, even some children with the most serious forms of primary immunodeficiency can live a normal life. But for all the growth in treatment options, lack of recognition and diagnosis of PI remains a major challenge, experts say.
"The front line for these diseases remains the patients' everyday physicians and nurse practitioners," Wedgwood says. "And if they don't think of the disease and diagnose it, more people will die without it ever being recognized."
More information
For more information on primary immunodeficiency, check the National Institute of Child Health and Human Development or The National Primary Immunodeficiency Resource Center.
