Jason Boehme

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome

MECP2 duplication syndrome (MDS) is a rare neurogenetic disorder characterized by neurodevelopmental delay, epilepsy, gastrointestinal dysfunction, and frequent infections. The broader spectrum of immune dysregulation remains poorly understood. We retrospectively reviewed four MD...