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

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.

Keywords: C3 deficiency; C3 gene mutation; complement deficiency; primary immunodeficiency; recurrent infections.