Genetic Information from Six Families Defines an Immune Disorder

At age 56, Roma Jean Ockler, from Highland, Utah, was continually afflicted with sinus infections and pneumonia, and despite treatments, only seemed to be getting worse. For decades, immunologist Harry R. Hill, M.D., had seen patients like her. At the time he couldn’t have known that her family’s genetic information, combined with that of five other families from across the world, would classify a new disorder. Their subtype of common variable immunodeficiency disorder (CVID) results from mutations in IKAROS, a protein well known for its central role in immune cell development. The new findings, published online in the New England Journal of Medicine (NEJM) on March 17, make possible a definitive genetic diagnosis for this class of CVID, opening the door to precision medicine tailored to patients with the disorder.

The research was a collaboration between Utah Genome Project investigators Hill and his colleagues Attila Kumánovics, M.D., Karl Voelkerding, M.D., Sarah South, Ph.D., Nancy Augustine, and Thomas Martins, M.S., from the University of Utah School of Medicine and the ARUP Institute for Clinical and Experimental Pathology at ARUP Laboratories in Salt Lake City, and with 26 other scientists from institutions across the U.S. and Europe.

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Photo credit: Jeffrey Allred, Deseret News

"Rare disease patients don’t realize how valuable they are." - Attila Kumanovics, MD