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.
Title: Complement Factor I Deficiency-Associated Neuroinflammatory Disease Among Old Order Amish
Published: June 30, 2025
Publication: Journal of Allergy and Clinical Immunology
Authors: Whitney Reid MD, Laura Baas BS, Amy L. Stiegler PhD, Titus J. Boggon PhD, Portia A. Kreiger MD, Kathleen E. Sullivan MD, PhD, Edward M. Behrens MD, Vinay V.R. Kandula MD, Lambert P. van den Heuvel PhD, Karlla W. Brigatti MS, Vincent J. Carson MD, Neil Romberg MD
Abstract:
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