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Article

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

Clinical immunology (Orlando, Fla.) - 1 Oct 2015

Bay Jakob Thaning, Katzenstein Terese Lea, Kofoed Kristian, Patel Dustin, Skjoedt Mikkel-Ole, Garred Peter, Schejbel Lone

Abstract excerpt

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...

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Complement C3
Complement Factor I
Consanguinity
Exons
Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

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Identifiers

PMID: 25988862
DOI: 10.1016/j.clim.2015.05.004

Genes

CFI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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