%0 Case Reports
%T Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene.
%A Coelho PS
%A Gouveia C
%A Pinto MV
%A Neves C
%A Cordeiro AI
%A Neves JF
%A Coelho PS
%A Gouveia C
%A Pinto MV
%A Neves C
%A Cordeiro AI
%A Neves JF
%J Front Pediatr
%V 10
%N 0
%D 2022
%M 36299691
%F 3.569
%R 10.3389/fped.2022.1017195
%X 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.