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An intriguing case of primary complement C3 deficiency

M I M Vendramini R J B Pigozzo; E S Reis; M P C Florido; C Naspitz; Lourdes Isaac; Meeting of the Brazilian Society for Immunology (31. 2006 Búzios)

Abstracts São Paulo, SP: Brazilian Society for Immunology, 2006

São Paulo 2006

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  • Título:
    An intriguing case of primary complement C3 deficiency
  • Autor: M I M Vendramini
  • R J B Pigozzo; E S Reis; M P C Florido; C Naspitz; Lourdes Isaac; Meeting of the Brazilian Society for Immunology (31. 2006 Búzios)
  • Assuntos: IMUNOLOGIA
  • É parte de: Abstracts São Paulo, SP: Brazilian Society for Immunology, 2006
  • Notas: Disponível em CD-ROM
  • Descrição: Introduction and Objectives: Complete C3 deficiency is rare and often associated to increased susceptibility to encapsulated microorganism. We describe a new case of C3 deficiency found in a Brazilian family (history of consanguinity) in which the proband is a 14 year old Brazilian boy who presented meningococcemia at age of 9 years; 4 sinusitis and several episodes fo tonsillitis. He has a normal brother and a sister who had microcefalia and died at age of 8 months. We characterized this deficiency and investigated the presence of mutations responsible for this deficiency. Methods and Results: The proband´s serum present 47 g/ml of C3, ~5% of normal range while the sera of all his close relations presented normal C3 levels. Despite these low levels of C3, C3-alpha (115 kDa) and C3-beta (70 kDa) is also observed by Western blot indicating the presence of intact and functional thio-ester bond in the C3-alpha chain. Other complement proteins are presente in the proband´s serum within normal range. The concentration of regulatory proteins Factor I and Factor H, and Factor B were normal excluding the possibility f deregulation of C3 consumption. C3NeF - an autoantibody which stabilizes the alternative C3 convertase (C3bBb) - was not found in the patient´s sera. His father and brother have normal levels of all complement proteins and normal hemolytic activity mediated by both classical and alternative pathways. C3 mRNA was expressed by proband´s fibroblast in similar
    intensity than control´s cells. All the patient´s C3 cDNA was amplified by RTPCR and revealed three differences: one polymorphism variation C364G resulting in an Arg102Gly substitution already found in normal C3; and two silent mutations, G2481C and A4956G. Conclusion: This is a new evaluation of a primary C3 deficiency. The deficiency cannot be explained by the presence of mutations in the C3 mRNA or by deregulation of the alternative pathway amplification.
  • Editor: São Paulo
  • Data de criação/publicação: 2006
  • Formato: res. CL.035.
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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