Autor(es): Coelho, PS ; Gouveia, C ; Pinto, MV ; Neves, C ; Cordeiro, AI ; Neves, JF
Data: 2022
Identificador Persistente: http://hdl.handle.net/10400.17/4334
Origem: Repositório do Centro Hospitalar de Lisboa Central, EPE
Assunto(s): C3 deficiency; C3 gene mutation; Primary immunodeficiency; Recurrent infections; HDE INF PED
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.
