The Manton Center for Orphan Disease Research
Erin Janssen, MD, PhD
Dr. Erin Janssen graduated with a B.S. in Biology from the Massachusetts Institute of Technology. She received her M.D. and Ph.D. degrees through the Medical Scientist Training Program at Duke University. Her graduate studies focused on signaling through the T and B cell receptors and their roles in lymphocyte development. In 2005, she joined the Boston Combined Residency Program for her pediatrics residency. After residency, Dr. Janssen remained at Boston Children's Hospital to pursue a clinical fellowship in Pediatric Rheumatology. She joined Dr. Raif Geha's laboratory in 2009 as an Immunology Research Fellow.
A focus of the Geha laboratory is elucidating the molecular basis of primary immunodeficiencies. Recently, DOCK8 deficiency has been identified as a cause of autosomal recessive hyper-IgE syndrome (AR-HIES). DOCK8 belongs to the DOCK180 superfamily of guanine nucleotide exchange factors. Beyond this, very little is known about DOCK8 function. Patients with DOCK8 deficiency have recurrent infections, especially chronic or recurrent viral skin infections, severe atopy, develop autoimmune phenomena, and appear to be at high risk for the development of malignancies. Dr. Janssen is developing a murine model of AR-HIES. She has devised two strategies to mimic both a point mutation and large deletions seen in AR-HIES patients. She plans to begin characterization of these mouse models in the coming year. Her focus will be on determining the roles of DOCK8 in lymphocyte development and the responses of the innate and adaptive immune systems to antigens. These studies will provide critical insight into the immune systems of patients with DOCK8 deficiency and may guide potential avenues for treatment.