Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency-Reference-Cited by-同舟云学术

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

Published:2015-10 Issue:2 Volume:160 Page:315-318
ISSN:1521-6616
Container-title:Clinical Immunology
language:en
Short-container-title:Clinical Immunology

Author:

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

Funder

Svend Andersen Research Foundation

Novo Nordisk Research Foundation

Research Foundation of the Capital Region of Denmark

Research Foundation at Rigshospitalet

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference11 articles.

1. Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion;Alba-Dominguez;Orphanet J. Rare Dis.,2012

2. Complement factor I deficiency with recurrent aseptic meningitis;Bonnin;Arch. Intern. Med.,1993

3. Disease-causing mutations in genes of the complement system;Degn;Am. J. Hum. Genet.,2011

4. Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis;Haerynck;J. Clin. Immunol.,2013

5. Complement factor I in health and disease;Nilsson;Mol. Immunol.,2011

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1. Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic;Immunobiology;2023-09

2. Complement Factor I Gene Variant as a Treatable Cause of Recurrent Aseptic Neutrophilic Meningitis;Neurology Neuroimmunology & Neuroinflammation;2023-09

3. Alternative pathway amplification and infections;Immunological Reviews;2022-11-06

4. A novel missense mutation in complement factor I predisposes patients to atypical hemolytic uremic syndrome: a case report;Journal of Medical Case Reports;2022-03-04

5. Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods;Frontiers in Immunology;2019-06-07

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