NIH Urges Pediatricians To Watch For Faulty Immune Systems

WASHINGTON (AP) -- Ear infections, flu, strep throat, abscesses -- Christopher Longo's illnesses started when he was 3 months old. Never fully over one bug before the next hit, he was so constantly sick his growth even faltered.

Yet doctor after doctor insisted to his desperate mother that kids just get sick. Chris was almost 4 and dying by the time they diagnosed a genetic disease that disabled his immune system, one that may have been treatable had doctors only caught it earlier.

Tragically, Chris' battle with this so-called "primary immunodeficiency" isn't an anomaly: Doctors have a hard time spotting when infections are more than ordinary.

Now the National Institutes of Health is banding with a parents' group to change that, telling 50,000 pediatricians to be suspicious of repeated infections -- and starting a $1.3 million study to track down more sufferers of faulty immune systems.

"Patients shouldn't be asking, 'Why did I have to have these two or three or four pneumonias before anybody thought to test me?"' says Dr. harlotte Cunningham-Rundles of Mount Sinai School of Medicine, who is leading the NIH study.

Primary immunodeficiency, or PI, is the term for any of 80 genetic diseases that weaken the immune system. This is not AIDS -- that immune-killing disease is spread by a virus. Primary immunodeficiency means children are born with faulty immune genes, putting them at risk for unusually repeated infections, sometimes death.

Perhaps the best known of these diseases is SCID, called "the bubble-boy disease" after a Texas boy who lived his short life in a sterile enclosure. Others are little known, like agammaglobulinemia or the Nezelof's syndrome that last October killed Chris Longo of Stamford, Connecticut, 11 days before his fourth birthday.

Today, many PI diseases are treatable if caught early, with regular infusions of immune components like gamma globulin or with a bone marrow transplant.

But nobody knows how many youngsters have PI. Undiagnosed cases range from recurring infections deemed too minor to fully investigate, like chronic sinusitis and bronchitis, to fatalities blamed on pneumonia or meningitis where no one asked the underlying cause. Cunningham-Rundles says one in 10,000 people is born with a serious PI -- NIH estimates the toll could reach half a million.

Some suffer to adulthood without diagnosis. Cunningham-Rundles cites:

Two teen-age boys not diagnosed until repeated infections did serious heart and lung damage; neither survived organ transplants.
A 26-year-old woman who survived 12 bouts of pneumonia before a doctor finally tested her blood for PI.
A woman diagnosed only after doctors discovered her newborn died because she hadn't had enough immune cells to pass on to her baby.

Diagnosis seems particularly problematic for minorities. PI clinics like Cunningham-Rundles' draw mostly white patients, yet studies from other countries, and basic genetics, suggest faulty immunity should occur evenly among racial groups. So with the NIH's $1.3 million, Cunningham-Rundles is tracing records at her New York hospital to estimate how often minority patients with repeated infections are missed -- and to find better ways to diagnose PI.

Partly, diagnosis is difficult because it's not unusual for children to get sick; youngsters with normal immunity can have numerous ear infections a year. So when should a kid get blood tests to check immune levels?

There are clear warning signs, says the Jeffrey Modell Foundation, founded by parents of a PI victim, partnered with NIH to spread to doctors and parents:

Eight or more ear infections, two or more serious sinus infections or two or more pneumonias in a year.
Two or more months on antibiotics with little effect, or need for intravenous antibiotics.
Two or more deep-seated infections.
Failure of an infant to gain weight or grow normally.
Recurrent, deep skin or organ abscesses.
Persistent mouth and throat sores, called thrush, after age 1.
Relatives with PI.

As Chris' mother puts it: "Don't listen to your doctor when they tell you to stop worrying" about repeated infections, says Debbe Longo, angry that her son's immunity wasn't checked until he had been hospitalized three times.

This article posted October 14, 2000.

NIH Urges Pediatricians To Watch For Faulty Immune Systems

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