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

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

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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 languageEnglish
Article number1017195
JournalFrontiers in Pediatrics
Volume10
DOIs
Publication statusPublished - 5 Oct 2022

Keywords

  • C3 deficiency
  • C3 gene mutation
  • complement deficiency
  • primary immunodeficiency
  • recurrent infections

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