Discovery of new PI shows value of grants for exploratory research

When Dr. Megan Cooper, director of the clinical immunology program and The Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies at St. Louis Children’s Hospital, applied for the Immune Deficiency Foundation’s research grant program in 2018, she didn’t know exactly what she was looking for. She wanted to use the grant to find a genetic explanation for the severe infections and autoimmune symptoms of two young boys who were medical mysteries. Her resulting work implicated variants in the toll-like receptor 8 (TLR8) gene for their condition. The research not only added a new disorder, TLR8 gain-of-function (GOF), to the list of primary immunodeficiencies (PIs) but also put a whole category of overlooked gene variants, called somatic variants, in the spotlight.