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

• Main Authors: Pedro Simão Coelho (Author), Catarina Gouveia (Author), Marta Valente Pinto (Author), Conceição Neves (Author), Ana Isabel Cordeiro (Author), João Farela Neves (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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, r...