Primary Immunodeficiency WHEN IT’S MORE THAN A STRING OF BAD INFECTIONS Nearly every child does battle with the common cold, ear infections, sinus infections or bronchitis. But frequent infections and other problems that are unusually hard to cure could be a sign a more serious problem. Primary immunodeficiency (PI) is a defect in the immune system that affects 10 million children worldwide. PI is an inherited condition that affects males and females of all ages, but the most severe forms frequently are detected in children, explains Rainbow allergist and immunologist Melvin Berger, MD, head of the new Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies at Rainbow Babies & Children’s Hospital. “Symptoms of PI often are overlooked because they appear to be common childhood illnesses such as sinus infections, pneumonia, fever and bronchitis,” Dr. Berger says. “For this reason, families and doctors often are unaware that the troubling conditions they are dealing with are actually rooted in a defect in the immune system.” Frequently, an underlying, smoldering infection continues when acute episodes seem to have resolved after antibiotics. PI includes more than 120 diseases caused by an immune system that does not function properly. Failure to diagnose PI can lead to serious chronic illness, permanent damage to health or even death. In many cases, PI diseases may become apparent only in midlife, so they should be considered in adults as well as children. When PI is suspected, Dr. Berger says, tests should be ordered promptly to find out if PI is indeed the problem. “Early recognition and diagnosis of PI can save lives and improve the health of many patients,” Dr. Berger says. Treatment for PI can include treating recurring infections with low or moderate doses of antibiotics to prevent permanent damage. Other patients may require immunoglobin therapy or bone marrow transplants, as appropriate. Stem cell transplants done in the first month of life now can cure most forms of severe combined immune deficiency (SCID), or “bubble-boy” disease. “Cutting-edge research and treatments are now making life-changing advancements possible,” Dr. Berger notes. “Today, patients with PI have ever-increasing options available to help them lead a healthy, normal life.” WARNING SIGNS Correct diagnosis begins with recognition of the 10 warning signs of primary immunodeficiency. Children who have two or more of the following symptoms should be seen by a physician to discuss the possibility of PI: Eight or more new ear infections within one year Two or more serious sinus infections within one year Two or more months on antibiotics with little effect Two or more pneumonias within one year Failure of an infant to gain weight or grow normally Recurrent, deep skin or organ abscesses Persistent thrush in mouth or elsewhere on skin, after age 1 Need for intravenous antibiotics to clear up infections Two or more deep-seated infections A family history of PI MELVIN BERGER, MD Allergist and Immunologist, Rainbow Babies & Children’s Hospital