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.
|Journal||Frontiers in Pediatrics|
|Publication status||Published - 5 Oct 2022|
- C3 deficiency
- C3 gene mutation
- complement deficiency
- primary immunodeficiency
- recurrent infections