Recurrent pyogenic infections caused by a novel Gln1420*mutation in the C3 gene

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.

Automated summary

C3 is a crucial protein in the complement system. Congenital C3 deficiency is extremely rare and presents with recurrent, severe infections, which should be considered as a possible cause of recurrent pyogenic infections. We report a case of a patient with a novel C3 gene mutation causing complete C3 deficiency, impaired complement system activation, and recurrent infections.