AUTHOR=Coelho Pedro Simão , Gouveia Catarina , Pinto Marta Valente , Neves Conceição , Cordeiro Ana Isabel , Neves João Farela 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.1017195

DOI=10.3389/fped.2022.1017195

ISSN=2296-2360

ABSTRACT=<p>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.</p>