In her study Elisabeth Salzer describes three novel monogenic diseases. ForCD27deficiency Elisabeth Salzer describes a large cohort of patients. Although all patients shared the same causative missense mutation, they displayed diverse clinical presentations. In another patient she was able to identify a mutation inPRKCDresulting in a primary immunodeficiency with severe Lupus-like autoimmunity. The patient exhibited increased mRNA levels ofIL6. Therefore, treatment with Tocilizumab, a humanized anti-IL-6 receptor monoclonal antibody was suggested. In a family with a history of deaths due to inflammatory bowel disease she identified a missense mutation inIL21. She produced wild type and mutated IL-21 protein and demonstrated a loss of function phenotype. As IL-21 is in clinical trials, she proposed a potentially curative treatment option. These discoveries contributed to the understanding of the multifaceted regulatory mechanisms of the immune system and highlighted essential players in these complex signaling networks. | Identifying Novel Inborn Errors Of The Immune System by Elisabeth Salzer, Paperback | Indigo Chapters