Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency

TY - JOUR

T1 - Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency

AU - Bay, Jakob Thaning

AU - Katzenstein, Terese Lea

AU - Kofoed, Kristian

AU - Patel, Dustin

AU - Skjødt, Mikkel-Ole

AU - Garred, Peter

AU - Schejbel, Lone

N1 - Copyright © 2015 Elsevier Inc. All rights reserved.

PY - 2015/10/1

Y1 - 2015/10/1

N2 - 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.

AB - 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.

KW - Adult

KW - Complement C3

KW - Complement Factor I

KW - Consanguinity

KW - Exons

KW - Female

KW - Genetic Diseases, Inborn

KW - Homozygote

KW - Humans

KW - Mutation

KW - Mutation, Missense

KW - Pedigree

KW - Vasculitis, Leukocytoclastic, Cutaneous

U2 - 10.1016/j.clim.2015.05.004

DO - 10.1016/j.clim.2015.05.004

M3 - Letter

C2 - 25988862

SN - 1521-6616

VL - 160

SP - 315

EP - 318

JO - Clinical Immunology

JF - Clinical Immunology

IS - 2

ER -