An intriguing case of primary complement C3 deficiency (2006)
- Autor USP: ISAAC, LOURDES - ICB
- Unidade: ICB
- Assunto: IMUNOLOGIA
- Language: Inglês
- Abstract: 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 similarintensity 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.
- Título do periódico: Abstracts
- Conference titles: Meeting of the Brazilian Society for Immunology
ABNTVENDRAMINI, M I M; PIGOZZO, R J B; REIS, E S; et al. An intriguing case of primary complement C3 deficiency. Anais.. São Paulo: [s.n.], 2006.
APAVendramini, M. I. M., Pigozzo, R. J. B., Reis, E. S., Florido, M. P. C., Naspitz, C., & Isaac, L. (2006). An intriguing case of primary complement C3 deficiency. In Abstracts. São Paulo.
NLMVendramini MIM, Pigozzo RJB, Reis ES, Florido MPC, Naspitz C, Isaac L. An intriguing case of primary complement C3 deficiency. Abstracts. 2006 ;
VancouverVendramini MIM, Pigozzo RJB, Reis ES, Florido MPC, Naspitz C, Isaac L. An intriguing case of primary complement C3 deficiency. Abstracts. 2006 ;
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