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- databases for immunodeficiency-causing variations

   CFIbase
   Variation registry for  Complement factor I deficiency


CFIbase mutation publications

[2009] [2008] [2003] [1996]

Search PubMed latest citations for CFI mutations

    2009

  • Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient.
    Chan MR, Thomas CP, Torrealba JR, Djamali A, Fernandez LA, Nishimura CJ, Smith RJ, Samaniego MD
    Am J Kidney Dis 2009(2): 321-6 [PubMed abstract].

  • Successful renal transplantation in a patient with atypical hemolytic uremic syndrome carrying mutations in both factor I and MCP.
    Cruzado JM, de Córdoba SR, Melilli E, Bestard O, Rama I, Sánchez-Corral P, López-Trascasa M, Navarro I, Torras J, Gomà M, Grinyó JM
    Am J Transplant 2009(6): 1477-83 [PubMed abstract].

    2008

  • Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation.
    Le Quintrec M, Lionet A, Kamar N, Karras A, Barbier S, Buchler M, Fakhouri F, Provost F, Fridman WH, Thervet E, Legendre C, Zuber J, Frémeaux-Bacchi V
    Am J Transplant 2008(8): 1694-701 [PubMed abstract].

  • Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits.
    Boyer O, Noël LH, Balzamo E, Guest G, Biebuyck N, Charbit M, Salomon R, Frémeaux-Bacchi V, Niaudet P
    Am J Kidney Dis 2008(4): 671-7 [PubMed abstract].

  • Molecular characterization of Complement Factor I deficiency in two Spanish families.
    Ponce-Castro IM, González-Rubio C, Delgado-Cerviño EM, Abarrategui-Garrido C, Fontán G, Sánchez-Corral P, López-Trascasa M
    Mol Immunol 2008(10): 2764-71 [PubMed abstract].

    2003

  • Molecular characterization of homozygous hereditary factor I deficiency.
    Baracho GV, Nudelman V, Isaac L
    Clin Exp Immunol 2003(2): 280-6 [PubMed abstract].

    1996

  • The molecular basis of hereditary complement factor I deficiency.
    Vyse TJ, Morley BJ, Bartok I, Theodoridis EL, Davies KA, Webster AD, Walport MJ
    J Clin Invest 1996(4): 925-33 [PubMed abstract].