Complement factor I deficiency: A potentially treatable cause of fulminant cerebral inflammation. [PDF]
Neurol Neuroimmunol Neuroinflamm, 2020 Objective To raise awareness of complement factor I (CFI) deficiency as a potentially treatable cause of severe cerebral inflammation. Methods Case report with neuroradiology, neuropathology, and functional data describing the mutation with review of ...
Altmann T +7 more
europepmc +6 more sources
Complement factor I in health and disease [PDF]
Molecular Immunology, 2011 Factor I (FI) is a crucial inhibitor controlling all complement pathways due to its ability to degrade activated complement proteins C3b and C4b in the presence of cofactors such as factor H, C4b-binding protein, complement receptor 1 or CD46.
Sara C. Nilsson +4 more
semanticscholar +8 more sources
Functional expression of complement factor I following AAV-mediated gene delivery in the retina of mice and human cells. [PDF]
Gene Ther, 2021 Dry age-related macular degeneration (AMD) is characterised by loss of central vision and currently has no approved medical treatment. Dysregulation of the complement system is thought to play an important role in disease pathology and supplementation of
Dreismann AK +6 more
europepmc +2 more sources
Complement Dysregulation in Obese Versus Nonobese Polycystic Ovary Syndrome Patients [PDF]
Cells, 2023 Introduction: Upregulation of complement system factors are reported to be increased in polycystic ovary syndrome (PCOS) and may be due to obesity and insulin resistance rather than inherently due to PCOS.
Alexandra E. Butler +3 more
doaj +3 more sources
Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration. [PDF]
Invest Ophthalmol Vis Sci, 2020 Purpose Rare genetic variants in complement factor I (CFI) that cause low systemic levels of the protein (FI) have been reported as a strong risk factor for advanced age-related macular degeneration (AMD).
Hallam TM +8 more
europepmc +2 more sources
Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) using a Serum-Based Assay in Advanced Age-related Macular Degeneration. [PDF]
Transl Vis Sci Technol, 2020 Purpose Factor I (FI) is a serine protease regulator of the complement system. Genetic variants in CFI are associated with advanced age-related macular degeneration (AAMD). However, the clinical and functional impact of these variants is unknown.
Java A +7 more
europepmc +2 more sources
Functional evaluation of rare variants in complement factor I using a minigene assay [PDF]
Frontiers in ImmunologyThe regulatory serine protease, complement factor I (FI), in conjunction with one of its cofactors (FH, C4BP, MCP, or CR1), plays an essential role in controlling complement activity through inactivation of C3b and C4b.
Cobey J. H. Donelson +4 more
doaj +2 more sources
Genetic, molecular and functional analyses of complement factor I deficiency [PDF]
European Journal of Immunology, 2008 AbstractComplete deficiency of complement inhibitor factor I (FI) results in secondary complement deficiency due to uncontrolled spontaneous alternative pathway activation leading to susceptibility to infections. Current genetic examination of two patients with near complete FI deficiency and three patients with no detectable serum FI and also close ...
Sara C. Nilsson +11 more
semanticscholar +5 more sources
Complement Factor I deficiency: A novel homozygous gene mutation
SAGE Open Medical Case Reports, 2022 Complement Factor I deficiency is a very rare autosomal recessive disease, with only 38 cases reported in the literature. It is caused by a homozygous mutation in the CFI gene (complement Factor I), which encodes for the Factor I protein, an important ...
Wafaa Bouzroud +4 more
doaj +2 more sources
A novel missense mutation in complement factor I predisposes patients to atypical hemolytic uremic syndrome: a case report [PDF]
Journal of Medical Case Reports, 2022 Background Atypical hemolytic uremic syndrome, also called the nondiarrheal form of hemolytic uremic syndrome, is a rare disease characterized by the triad of thrombocytopenia, Coomb’s test-negative microangiopathic hemolytic anemia, and acute renal ...
Xin Wei +5 more
doaj +2 more sources