Immunologist Charlotte Cunningham-Rundles, MD, PhD, has seen the damaging effects of the struggle many patients have obtaining proper diagnoses for their immune deficiency diseases.

“There are more than 100 known immune defects, but the overall clinical presentation, the illnesses that appear, and the immunologic abnormalities present in each are very different,” Cunningham-Rundles explained. “While these diseases are believed to be present in all populations, the diagnosis of primary immune deficiency varies considerably from one country to the next, and in the United States, even from one state to the next. We think this results from under-diagnosis and delayed diagnosis, which leads to increased morbidity and higher medical costs; in many cases the delay results in increased mortality.”

In response to this problem, Cunningham-Rundles and some colleagues applied for and received a National Institutes of Health grant to conduct a study call STRIDE, Study Targeting Recognition of Immune Deficiency and Evaluation. The hypothesis of STRIDE is that undiagnosed patients can be identified in large hospital or insurance populations, by using a newly devised computer scoring program to evaluate diagnoses associated with immune deficiencies.

“At Mount Sinai Hospital, we used the computer algorithm to find patients who had two or more significant illnesses suggestive of immunodeficiency, without other diagnoses leading to these conditions,” Cunningham-Rundles recounted. “When we tested a group of these patients, we verified that immune defects were present in 35 percent. We are continuing our program at this hospital and at affiliated hospitals in the New York area, and we are seeking to extend this to additional hospitals.”

For more information about implementing the STRIDE algorithm at your hospital, please contact 212-659-9268.

The STRIDE study also includes an important outreach program to solicit information directly from patients. One method of doing this is through an electronic survey. The survey will help identify what medical problems are important to patients and what events led to their correct diagnoses.

“We need as many patients as we can possibly reach to take the survey,” said Cunningham-Rundles. “Their input is a very important part of our research, which will ultimately help improve evaluation and diagnosis of immune deficiencies.”