1 - Serviço de Imunoalergologia, Hospital Dona Estefânia, CHULC-EPE
2 - Serviço de Infeciologia, Hospital Dona Estefânia, CHULC-EPE
3 - Comprehensive Health Research Centre (CHRC), NOVA Medical School, Lisboa, Portugal
4 - Unidade de Imunodeficiências Primárias, Hospital Dona Estefânia, CHULC-EPE
5 - Chronic Diseases Research Center (CEDOC), NOVA Medical School, NOVA Lisboa, Portugal
- Comunicação oral na reunião do Anuário 2023
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