Recurrent Pyogenic Infections Caused by a Movel Gln1420* Mutation in the C3 Gene

Coelho, PSGouveia, CPinto, MVNeves, CCordeiro, AINeves, JF2022-12-292022-12-292022Front Pediatr . 2022 Oct 5;10:1017195http://hdl.handle.net/10400.17/4334C3 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.engC3 deficiencyC3 gene mutationPrimary immunodeficiencyRecurrent infectionsHDE INF PEDRecurrent Pyogenic Infections Caused by a Movel Gln1420* Mutation in the C3 Genejournal article10.3389/fped.2022.1017195