DiGeorge Syndrome (DGS) is a rare genetic disease caused by a defect in multiple genes on chromosome 22, leading to defective development of the pharyngeal pouch system and variety of consequences including congenital heart disease, dysfunctional calcium metabolism, and thymic hypoplasia among others. Children born with complete DiGeorge Syndrome (cDGS) represent approximately 1% of the overall DiGeorge population and lack any thymic tissue (athymia). This causes severe immunodeficiency due to an inability to produce normally functioning T-cells, which defend against infection and regulate essential processes in the immune system. cDGS is uniformly fatal if untreated, with death typically occurring in the first two years of life due to susceptibility to infection.
If you know of a child with Complete DiGeorge Syndrome, or are a physician interested in collaboration, please get in touch with the Enzyvant team at firstname.lastname@example.org