Complement Factor I Deficiency-Associated Neuroinflammatory Disease Among Old Order Amish

Complement factor I (CFI) deficiency is an ultra-rare inborn disorder of complement regulation that manifests with protean infectious, vasculitic, and neuroinflammatory symptoms. To functionally validate a previously unrecognized, disease-associated CFI variant (Y459S) and determine variant enrichment in the Old Order Amish population.