A new genomics study, led by the Center for Applied Genomics at The Children's Hospital of Philadelphia, sets the stage for the first predictive diagnostic test in a serious immunodeficiency disease in children. If the disorder, common variable immunodeficiency disease (CVID), can be diagnosed early, children may receive life-saving treatments before the disease can progress.
"Currently, there may be a delay of up to nine years from the first time a child becomes sick from this very complex disease until he or she is diagnosed," said Jordan S. Orange, M.D., Ph.D., a pediatric immunologist at The Children's Hospital of Philadelphia and co-lead author of the study. "During this delay, a child may suffer repeated infections and life-shortening organ damage. Identifying CVID at an early stage may allow physicians to intervene earlier with appropriate treatment."
At Children's Hospital, Orange directs the Jeffrey Modell Diagnostic Center and cares for children with primary immunodeficiency diseases. Orange collaborated with Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia, Charlotte Cunningham Rundles, M.D., of Mt. Sinai School of Medicine, New York City, and researchers from several other institutions.
The research, the first genome-wide population-based study of CVID, appeared online April 15 in the Journal of Allergy and Clinical Immunology.
In CVID, a child has a low level of antibodies (specifically immunoglobulins), reducing the body's ability to fight disease, and leaving the child vulnerable to recurrent infections. CVID can first occur early or later in life, and the symptoms are highly variable. Frequent respiratory infections may lead to permanent lung damage. Patients may also suffer joint inflammation, stomach and bowel disorders, and a higher risk of cancers.
The great variability of the disease, coupled with the lack of a clear-cut
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Children's Hospital of Philadelphia