- databases for immunodeficiency-causing variations

   Variation registry for  C3 deficiency

C3base mutation publications

[2009] [2008] [2005] [2004] [2002] [2001] [1996] [1994] [1992] [1990] [ ]

Search PubMed latest citations for C3 mutations


  • A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.
    Lhotta K, Janecke AR, Scheiring J, Petzlberger B, Giner T, Fally V, Würzner R, Zimmerhackl LB, Mayer G, Fremeaux-Bacchi V
    Clin J Am Soc Nephrol 2009(8): 1356-62 [PubMed abstract].


  • Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells.
    Ghannam A, Pernollet M, Fauquert JL, Monnier N, Ponard D, Villiers MB, Péguet-Navarro J, Tridon A, Lunardi J, Gerlier D, Drouet C
    J Immunol 2008(7): 5158-66 [PubMed abstract].


  • Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus.
    Tsukamoto H, Horiuchi T, Kokuba H, Nagae S, Nishizaka H, Sawabe T, Harashima S, Himeji D, Koyama T, Otsuka J, Mitoma H, Kimoto Y, Hashimura C, Kitano E, Kitamura H, Furue M, Harada M
    Biochem Biophys Res Commun 2005(1): 298-304 [PubMed abstract].


  • Nonsense-codon-mediated decay in human hereditary complement C3 deficiency.
    Reis ES, Nudelman V, Isaac L
    Immunogenetics 2004(10): 667-73 [PubMed abstract].


  • Homozygous hereditary C3 deficiency due to a premature stop codon.
    Da Silva Reis E, Baracho GV, Sousa Lima A, Farah CS, Isaac L
    J Clin Immunol 2002(6): 321-30 [PubMed abstract].


  • Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters.
    Matsuyama W, Nakagawa M, Takashima H, Muranaga F, Sano Y, Osame M
    Intern Med 2001(12): 1254-8 [PubMed abstract].


  • Inherited complement C3 deficiency: reduced C3 mRNA and protein levels in a Laotian kindred.
    Singer L, Van Hee ML, Lokki ML, Kramer J, Borzy MS, Wetsel RA
    Clin Immunol Immunopathol 1996(3): 244-52 [PubMed abstract].


  • A hereditary C3 deficiency due to aberrant splicing of exon 10.
    Huang JL, Lin CY
    Clin Immunol Immunopathol 1994(2): 267-73 [PubMed abstract].


  • Homozygous hereditary C3 deficiency due to a partial gene deletion.
    Botto M, Fong KY, So AK, Barlow R, Routier R, Morley BJ, Walport MJ
    Proc Natl Acad Sci U S A 1992(11): 4957-61 [PubMed abstract].


  • Molecular basis of hereditary C3 deficiency.
    Botto M, Fong KY, So AK, Rudge A, Walport MJ
    J Clin Invest 1990(4): 1158-63 [PubMed abstract].

  • The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency.
    Kida M, Fujioka H, Kosaka Y, Hayashi K, Sakiyama Y, Ariga T
    Blood Cells Mol Dis (3): 410-3 [PubMed abstract].

This site is updated by Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
c3pubs.shtmlLast modified 01.07.2014