Clinical Insights Derived From B-Cell Immunodeficiency Disorders

Abstract SCI-19

Over the last four decades, the genetic defects leading to more than 140 distinct inherited immune disorders have been discovered. A subset of these diseases primarily impact B cell development, homeostasis, and/or activation. This talk will provide an overview of these B cell disorders. It will highlight new information regarding human immune function that has been gained from studying these disorders including: the role of key receptors or signaling effectors in immune development or activation, how such changes may impact pathogen specific versus autoimmune responses, and how targeting these pathways may provide a means to modulate other more common human immune diseases. Finally, we will provide a brief overview of efforts to correct one of these disorders in patients using genetic therapies.