Immunologist Charlotte Cunningham-Rundles, M.D., Ph.D., will direct the new study at Mount Sinai School of Medicine in New York City. She and a team of computer scientists, statisticians, nurses and heath educators will develop a computer-assisted method to screen patients for primary immunodeficiency diseases as well as educational materials for health care workers serving minority populations.

The study is co-funded by the National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Child Health and Human Development, and the National Cancer Institute. It is an example of increased collaboration among NIH components to fund research that addresses health disparities, notes Denise Wiesch, Ph.D., the NIAID program officer overseeing the award.

More than 80 different primary immunodeficiency diseases affect approximately half a million individuals in the United States. The most severe problems occur in children, rendering them highly susceptible to recurrent and life-threatening infections. Unlike secondary immune disorders, such as HIV/AIDS, caused by viruses or bacteria that disrupt normal immune function, primary immunodeficiencies are often linked to inherited genetic changes. Besides infections, the resulting immune system malfunctions can lead to chronic diarrhea, severe skin problems, and autoimmune disorders. If such warning signs are detected early enough, doctors can sometimes successfully treat people suffering from primary immunodeficiencies.

Unfortunately, the symptoms of these illnesses are often mistakenly attributed to other illnesses, so patients do not receive proper treatment. The Mt. Sinai study should help develop standards to assist health care workers in identifying people with primary immunodeficiencies. One phase of the project will involve reviewing hospital records from the past five years, which contain universal codes used by all physicians to define their patients' conditions. By examining records for codes commonly related to primary immunodeficiency diseases, this survey will help define a more precise profile of the combinations of disease codes that indicate probable primary immunodeficiencies. The review will also help uncover where in the health care system such patients might typically be found, such as pediatric emergency rooms, where children are treated for related conditions.

Other clinical investigators will work with community clinics and hospitals in New York City to identify current patients whose records indicate more than one of the relevant disease codes. Those patients will be invited to receive clinical tests to see if they have any primary immunodeficiencies.

The study team also will develop educational materials for wide distribution to doctors serving minority populations in order to increase awareness and improve diagnosis of these diseases.

Press releases, fact sheets and other NIAID-related materials are available on the NIAID Web site at http://www.niaid.nih.gov.