Young Girl Nearly Dies from Flu Infection Because of Mutations in Both Homologous Copies of IRF7 Gene for Interferon Amplification

Nobody likes getting the flu, but for some people, fluids and rest aren't enough. A small number of children who catch the influenza virus fall so ill they end up in the hospital -- perhaps needing ventilators to breathe -- even while their family and friends recover easily. New research by Rockefeller University scientists, published online on March 26, 2015 in Science, helps explain why: rare genetic mutations. The article is titled “Life-Threatening influenza and Impaired Interferon Amplification in Human IRF7 Deficiency.” The researchers scrutinized blood and tissue samples from a young girl who, at the age of two-and-a-half, developed acute respiratory distress syndrome after catching the flu, and ended up fighting for her life in the hospital. Years after her ordeal, which she survived, scientists led by Rockefeller’s Dr. Jean-Laurent Casanova discovered that it could be explained by rare mutations she carries that prevented her from producing a protein, interferon, that helps fight off the virus. "This is the first example of a common, isolated, and life-threatening infection of childhood that is shown to be also a genetic disease," says Dr. Casanova. The good news from these results, however, is that clinicians have a new treatment option for children who mysteriously develop severe cases of the flu. "This finding suggests that one could treat severe flu of childhood with interferon, which is commercially available," says Dr. Casanova, who is Professor and Head of the St. Giles Laboratory of Human Genetics of Infectious Disease at Rockefeller, as well as a Howard Hughes Medical Institute (HHMI) investigator. The fact that a child's genes could affect the severity of her illness wasn't a surprise to the members of Casanova's lab, who have been studying this phenomenon for decades.
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