Results 11 to 20 of about 1,284,220 (297)

Complement factor I deficiency: A potentially treatable cause of fulminant cerebral inflammation. [PDF]

Neurol Neuroimmunol Neuroinflamm, 2020
To raise awareness of complement factor I (CFI) deficiency as a potentially treatable cause of severe cerebral inflammation.Case report with neuroradiology, neuropathology, and functional data describing the mutation with review of literature.We present a case of acute, fulminant, destructive cerebral edema in a previously well 11-year-old ...
Altmann T, Torvell M, Owens S, Mitra D, Sheerin NS, Morgan BP, Kavanagh D, Forsyth R.   +7 more
europepmc   +6 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, Amal Tazzite, Ibenbrahim yousra, Bouchaïb Gazzaz, Hind Dehbi   +4 more
doaj   +2 more sources

High prevalence of the hotspot complement factor I p.Ile357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature [PDF]

Frontiers in Immunology
IntroductionAtypical Hemolytic Uremic Syndrome (aHUS) is the prototype of renal diseases secondary to dysregulation of the alternative complement pathway.
Asma Tajouri, Asma Tajouri, Asma Tajouri, Imen Ayadi, Imen Ayadi, Rimeh BenBrahim, Rimeh BenBrahim, Ikram Mami, Abir Boussetta, Hend Jlajla, Hend Jlajla, Yousr Zerzeri, Haifa Arbi Sassi, Jamila Ben Sassi, Hela Sahli, Lilia Laadhar, Lilia Laadhar, Tahar Gargah, Mohamed Karim Zouaghi, Maryam Kallel Sellami, Maryam Kallel Sellami   +20 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, Juan Li, Xiaojiang Zhan, Luxia Tu, Haowen Huang, Ying Wang   +5 more
doaj   +2 more sources

C3 glomerulonephritis and thrombotic microangiopathy of renal allograft after pulmonary infection in a male with concomitant two complement factor I gene variations: a case report [PDF]

BMC Nephrology, 2018
Background It has been suggested that C3 glomerulonephritis (C3GN) and atypical hemolytic-uremic syndrome (a stereotypical phenotype of thrombotic microangiopathy), two rare entities caused by complement alternative pathway dysregulation share ...
Jiqiu Wen, Wei Wang, Feng Xu, Jun Sun, Jinsong Chen, Xuefeng Ni   +5 more
doaj   +2 more sources

A surface lipoprotein on Pasteurella multocida binds complement factor I to promote immune evasion. [PDF]

PLoS Pathogens
Pasteurella multocida is the leading cause of wound infections in humans following animals' bites or scratches. This bacterium is also commonly found in the respiratory tract of many mammals and can cause serious diseases resulting in the rapid death of ...
Quynh Huong Nguyen, Chun Heng Royce Lai, Michael J Norris, Dixon Ng, Megha Shah, Christine Chieh-Lin Lai, David E Isenman, Trevor F Moraes   +7 more
doaj   +2 more sources

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods [PDF]

Frontiers in Immunology, 2019
Deficiency of complement factor I is a rare immunodeficiency that typically presents with increased susceptibility to encapsulated bacterial infections.
Adrian M. Shields, Adrian M. Shields, Alistair T. Pagnamenta, Andrew J. Pollard, OxClinWGS, Jenny C. Taylor, Holger Allroggen, Smita Y. Patel, Jenny C. Taylor, Samantha J. L. Knight, Alistair T. Pagnamenta, Niko Popitsch, Carme Camps, Melissa M. Pentony, Erika M. Kvikstad, Lukas Lange, Mona Hashim, Steve Harris, Mark Tilley, Dimitris Vavoulis, Pamela Kaisaki, Vassilis Ragoussis, Matteo Feral   +22 more
doaj   +2 more sources

Hereditary complement factor I deficiency [PDF]

QJM : monthly journal of the Association of Physicians, 1994
We describe four cases (from three families) of hereditary factor I deficiency, bringing the total number of cases now reported to 23. In one family there are two affected siblings: one has suffered recurrent pyogenic infections; the other is asymptomatic.
TJ Vyse, Peter J. Spath, Kevin Davies, Bernard J. Morley, P. Philippe, Panagiotis Athanassiou, Carla Giles, Mark Walport   +7 more
  +8 more sources

Prevalence and phenotype associations of complement factor I mutations in geographic atrophy. [PDF]

Hum Mutat, 2021
Khan AH, Sutton J, Cree AJ, Khandhadia S, De Salvo G, Tobin J, Prakash P, Arora R, Amoaku W, Charbel Issa P, MacLaren RE, Bishop PN, Peto T, Mohamed Q, Steel DH, Sivaprasad S, Bailey C, Menon G, Kavanagh D, Lotery AJ.   +19 more
europepmc   +3 more sources

Plasma Levels of Complement Factor I and C4b Peptides Are Associated with HIV Suppression. [PDF]

ACS Infect Dis, 2017
Wu B, Ouyang Z, Lyon CJ, Zhang W, Clift T, Bone CR, Li B, Zhao Z, Kimata JT, Yu XG, Hu Y.   +10 more
europepmc   +2 more sources