Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency
Publikation: Bidrag til tidsskrift › Letter › Forskning › fagfællebedømt
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Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency. / Bay, Jakob Thaning; Katzenstein, Terese Lea; Kofoed, Kristian; Patel, Dustin; Skjødt, Mikkel-Ole; Garred, Peter; Schejbel, Lone.
I: Clinical Immunology, Bind 160, Nr. 2, 10.2015, s. 315-8.Publikation: Bidrag til tidsskrift › Letter › Forskning › fagfællebedømt
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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
Y1 - 2015/10
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
VL - 160
SP - 315
EP - 318
JO - Clinical Immunology
JF - Clinical Immunology
SN - 1521-6616
IS - 2
ER -
ID: 160447666