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

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...

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Detalles Bibliográficos
Autores principales: Coelho, Pedro Simão, Gouveia, Catarina, Pinto, Marta Valente, Neves, Conceição, Cordeiro, Ana Isabel, Neves, João Farela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589888/
https://www.ncbi.nlm.nih.gov/pubmed/36299691
http://dx.doi.org/10.3389/fped.2022.1017195