Minji Byun, PhD

Multicentric Castleman disease (MCD) is a rare lymphoproliferative disorder, characterized by episodes of systematic inflammatory symptoms that can lead to death in severe cases. The etiology of HHV-8 negative MCD is unknown. We hypothesize that genetic mutations (inherited or acquired) contribute to the initiation and progression of MCD. By performing and analyzing whole-genome sequencing data of a cohort of MCD patients, we have identified a mutation in the FAS gene in a familial case (Baker et al). We are currently characterizing additional candidate gene mutations affecting various immune pathways. We are closely collaborating with the Castleman Disease Collaborative Network on this project.