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.
Original language | English |
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Article number | 1017195 |
Journal | Frontiers in Pediatrics |
Volume | 10 |
DOIs | |
Publication status | Published - 5 Oct 2022 |
Externally published | Yes |
Keywords
- C3 deficiency
- C3 gene mutation
- complement deficiency
- primary immunodeficiency
- recurrent infections