An intriguing case of primary complement C3 deficiency (2006)
- Authors:
- USP affiliated author: ISAAC, LOURDES - ICB
- School: ICB
- Subject: 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.
- Imprenta:
- Source:
- Título do periódico: Abstracts
- Conference title: Meeting of the Brazilian Society for Immunology
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ABNT
VENDRAMINI, 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. -
APA
Vendramini, 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. -
NLM
Vendramini MIM, Pigozzo RJB, Reis ES, Florido MPC, Naspitz C, Isaac L. An intriguing case of primary complement C3 deficiency. Abstracts. 2006 ; -
Vancouver
Vendramini MIM, Pigozzo RJB, Reis ES, Florido MPC, Naspitz C, Isaac L. An intriguing case of primary complement C3 deficiency. Abstracts. 2006 ; - A new model of outbred genetically selected mice which present strong acute inflammatory response and Nramp-1 resistant gene in the absence of C5
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