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:
Pediatrics
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
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author Coelho, Pedro Simão
Gouveia, Catarina
Pinto, Marta Valente
Neves, Conceição
Cordeiro, Ana Isabel
Neves, João Farela
author_facet Coelho, Pedro Simão
Gouveia, Catarina
Pinto, Marta Valente
Neves, Conceição
Cordeiro, Ana Isabel
Neves, João Farela
author_sort Coelho, Pedro Simão
collection PubMed
description 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.
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spelling pubmed-95898882022-10-25 Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene Coelho, Pedro Simão Gouveia, Catarina Pinto, Marta Valente Neves, Conceição Cordeiro, Ana Isabel Neves, João Farela Front Pediatr Pediatrics 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. Frontiers Media S.A. 2022-10-05 /pmc/articles/PMC9589888/ /pubmed/36299691 http://dx.doi.org/10.3389/fped.2022.1017195 Text en © 2022 Coelho, Gouveia, Pinto, Neves, Cordeiro and Neves. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Coelho, Pedro Simão
Gouveia, Catarina
Pinto, Marta Valente
Neves, Conceição
Cordeiro, Ana Isabel
Neves, João Farela
Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene
title Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene
title_full Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene
title_fullStr Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene
title_full_unstemmed Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene
title_short Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene
title_sort recurrent pyogenic infections caused by a novel gln1420* mutation in the c3 gene
topic Pediatrics
url 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
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