Published: July 2, 2007
Updated: Mar. 25, 2010
Some diseases can kill before they are even diagnosed.
Among them are the primary immunodeficiency diseases, or PIDs -- and these are among the most heartrending, because PIDs often claim the lives of the very, very young.
Pediatric immunologist Rebecca Buckley, MD, has made a career of turning such tragedy into miracle. A longtime Duke faculty member, she has treated and researched PIDs for some 40 years -- almost as long as the field of pediatric immunology has been around.
Now a designation honoring the work of Buckley and other Duke experts in pediatric immunology will help reinforce their efforts.
The Immune Deficiency Foundation, a national patient organization, has named Duke a Center of Excellence for Primary Immunodeficiency Diseases.
Buckley directs the new center, which supports 21 physician-scientists, nurses, researchers, and staff.
A grant from Talecris Biotherapeutics will help purchase equipment to aid the center in one of its central missions: diagnosing PIDs with speed and accuracy.
Some PIDs, when caught early, can be successfully treated, and most are very easy to screen for. But they almost never are -- at least not until a person becomes dreadfully ill, says Buckley.
For example, she says, one of the easiest screenings involves a simple blood count with manual differential to check for a low lymphocyte count, which can signal serious immune disorders such as severe combined immunodeficiency disorder (SCID), or “bubble boy” disease.
“When I was an intern and resident, we would do these kinds of tests all the time,” says Buckley.
“But nowadays, HMOs don’t want to pay for that.”
In the absence of screening, PID diagnosis can take years -- primarily because these diseases are unfamiliar to both patients and health-care providers. Additionally, there aren’t many medical centers in the country that specialize in diagnosing PIDs.
“Those who are familiar with PIDs are already familiar with Duke’s experience in treating them,” says Buckley. “But most people aren’t aware of either. This new center of excellence will help that; now, when the IDF gets calls from new patients, they can refer them here.”
The grant from Talecris will buy Duke’s center a new real-time PCR (polymerase chain reaction) machine.
“This equipment gives us what we need to determine, in conditions where T-cell function is abnormal, whether it’s due to something external or to a genetic defect,” says Buckley.
Such measurements are useful in diagnostics as well as in research.
Buckley is currently following children who have received stem-cell transplants to treat SCID, a condition that is uniformly fatal in infancy unless diagnosed and treated properly. Buckley pioneered the lifesaving transplant in 1982; her oldest patient is now 27 and holds an MBA. The second-oldest is a third-year medical student.
“When we transplant SCID infants in the first 3.5 months of life, our survival rate is 94 percent,” she says.
“When I first came into this field, only one [PID] was known,” adds Buckley. “Before 1952 these illnesses were attributed to some bad germ in the environment. And there’s just been an explosion of information since then -- more than 150 PIDs have been identified so far.
“I used to watch these babies die all the time. Since 1982 we’ve performed 165 bone marrow transplants in ‘bubble-boy’ infants here at Duke, and we have an overall survival rate of 76 percent.
“It makes me enormously happy for these children and their families.”