title: Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency.
abstract: Factor I is an important regulator of the complement system. Lack of Factor I causes uncontrolled activation of the complement system leading to consumption of C3. Complete deficiency of Factor I is a rare condition and only around 40 cases has been reported in the literature. The clinical presentation of Factor I deficiency varies and includes severe recurrent bacterial infections, glomerulonephritis and autoimmune diseases. The patient, a 28-years old woman with consanguineous parents, presented with recurrent leukocytoclastic vasculitis in the lower extremities with no associated systemic involvement, and without increased infection tendency. Initial testing showed low C3 concentration and a detailed complement evaluation absence of complement Factor I. Sequencing revealed a homozygous missense mutation in exon 2 of the CFI gene (SCV000221312). Even though the clinical symptoms of CFI mutations vary among patients sole association with leukocytoclastic vasculitis redefines the clinical spectrum of complete Factor I deficiency.
authors.affiliation: Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, Rigshospitalet, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
authors.forename: Jakob Thaning
authors.initials: JT
authors.lastname: Bay
authors.affiliation: Department of Infectious Diseases both at Rigshospitalet, University Hospital, Rigshospitalet, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
authors.forename: Terese Lea
authors.initials: TL
authors.lastname: Katzenstein
authors.affiliation: Department of Dermato-Allergology, Gentofte University Hospital, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
authors.forename: Kristian
authors.initials: K
authors.lastname: Kofoed
authors.affiliation: Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, Rigshospitalet, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
authors.forename: Dustin
authors.initials: D
authors.lastname: Patel
authors.affiliation: Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, Rigshospitalet, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
authors.forename: Mikkel-Ole
authors.initials: MO
authors.lastname: Skjoedt
authors.affiliation: Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, Rigshospitalet, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark. Electronic address: garred@post5.tele.dk.
authors.forename: Peter
authors.initials: P
authors.lastname: Garred
authors.affiliation: Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, Rigshospitalet, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
authors.forename: Lone
authors.initials: L
authors.lastname: Schejbel
mesh_terms: D000328:Adult; D003176:Complement C3 / Q000172:deficiency* / Q000235:genetics; D017244:Complement Factor I / Q000235:genetics*; D003241:Consanguinity; D005091:Exons; D005260:Female; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000235:genetics*; D000081208:Hereditary Complement Deficiency Diseases; D006720:Homozygote; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D018366:Vasculitis, Leukocytoclastic, Cutaneous / Q000209:etiology / Q000235:genetics*
chemical_list: D003176:Complement C3; C493611:CFI protein, human; D017244:Complement Factor I
keywords: CFI; Complement Factor I; Complement deficiency; Complement regulation; Leukocytoclastic vasculitis