{Reference Type}: Case Reports
{Title}: Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene.
{Author}: Coelho PS;Gouveia C;Pinto MV;Neves C;Cordeiro AI;Neves JF;Coelho PS;Gouveia C;Pinto MV;Neves C;Cordeiro AI;Neves JF;
{Journal}: Front Pediatr
{Volume}: 10
{Issue}: 0
{Year}: 2022
{Factor}: 3.569
{DOI}: 10.3389/fped.2022.1017195
{Abstract}: 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.