1 - Serviço de Imunoalergologia, Centro Hospitalar Universitário de Lisboa Central
2 - Serviço de Infeciologia Pediátrico, Centro Hospitalar Universitário de Lisboa Central
3 - Unidade de Imunodeficiências Primárias, Centro Hospitalar Universitário de Lisboa Central
- Frontiers in Pediatrics
C3 is a crucial protein of the complement system. Congenital C3 deficiency is extremely rare and manifests through recurrent, severe infections and should always be considered as a differential diagnosis of recurrent pyogenic infections. We report a case of a patient with a novel C3 gene mutation, responsible for complete C3 deficiency with impaired complement system activation and recurrent infections.
Palavras Chave: primary immunodeficiency, complement deficiency, C3 deficiency, C3 gene mutation, recurrent infections