Research Reveals Potential Target for Immune Diseases
A medical mystery served as the genesis for a Yale-led study that has promising implications for treating a range of autoimmune diseases . A young girl entered the clinic suffering from blood cell abnormalities, difficulty breathing, and later, diarrhea. She also had been diagnosed with recurrent infections due to low levels of antibody production. Her doctors treated her with corticosteroids to reduce her lung and gut inflammation and immunoglobulin replacement therapy to restore her antibody levels. The lab of Carrie Lucas, PhD , associate professor of immunobiology at Yale School of Medicine, works with children living with rare immune disorders that stem from a single (monogenic) gene mutation with the goal of better understanding the intricate circuitry of human immunology. Through genome sequencing, Lucas discovered that the girl’s symptoms were caused by mutations that created a deficiency in phosphatidylinositol 3-kinase-gamma (PI3Kγ), a signaling molecule that...