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.
CITATION STYLE
Coelho, P. S., Gouveia, C., Pinto, M. V., Neves, C., Cordeiro, A. I., & Neves, J. F. (2022). Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene. Frontiers in Pediatrics, 10. https://doi.org/10.3389/fped.2022.1017195
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