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

Detalhes bibliográficos
Autor(a) principal: Coelho, Pedro Simão
Data de Publicação: 2022
Outros Autores: Gouveia, Catarina, Pinto, Marta Valente, Neves, Conceição, Cordeiro, Ana Isabel, Neves, João Farela
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/145222
Resumo: Funding Information: The present publication was funded by Fundação Ciência e Tecnologia, IP national support through CHRC (UIDP/04923/2020).
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spelling Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 geneC3 deficiencyC3 gene mutationcomplement deficiencyprimary immunodeficiencyrecurrent infectionsPediatrics, Perinatology, and Child HealthFunding Information: The present publication was funded by Fundação Ciência e Tecnologia, IP national support through CHRC (UIDP/04923/2020).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.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)Comprehensive Health Research Centre (CHRC) - pólo NMSCentro de Estudos de Doenças Crónicas (CEDOC)RUNCoelho, Pedro SimãoGouveia, CatarinaPinto, Marta ValenteNeves, ConceiçãoCordeiro, Ana IsabelNeves, João Farela2022-11-03T22:14:11Z2022-10-052022-10-05T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/145222eng2296-2360PURE: 47543544https://doi.org/10.3389/fped.2022.1017195info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:25:24Zoai:run.unl.pt:10362/145222Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:51:58.250474Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv 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
spellingShingle Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene
Coelho, Pedro Simão
C3 deficiency
C3 gene mutation
complement deficiency
primary immunodeficiency
recurrent infections
Pediatrics, Perinatology, and Child Health
title_short 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_sort Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene
author Coelho, Pedro Simão
author_facet Coelho, Pedro Simão
Gouveia, Catarina
Pinto, Marta Valente
Neves, Conceição
Cordeiro, Ana Isabel
Neves, João Farela
author_role author
author2 Gouveia, Catarina
Pinto, Marta Valente
Neves, Conceição
Cordeiro, Ana Isabel
Neves, João Farela
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
Comprehensive Health Research Centre (CHRC) - pólo NMS
Centro de Estudos de Doenças Crónicas (CEDOC)
RUN
dc.contributor.author.fl_str_mv Coelho, Pedro Simão
Gouveia, Catarina
Pinto, Marta Valente
Neves, Conceição
Cordeiro, Ana Isabel
Neves, João Farela
dc.subject.por.fl_str_mv C3 deficiency
C3 gene mutation
complement deficiency
primary immunodeficiency
recurrent infections
Pediatrics, Perinatology, and Child Health
topic C3 deficiency
C3 gene mutation
complement deficiency
primary immunodeficiency
recurrent infections
Pediatrics, Perinatology, and Child Health
description Funding Information: The present publication was funded by Fundação Ciência e Tecnologia, IP national support through CHRC (UIDP/04923/2020).
publishDate 2022
dc.date.none.fl_str_mv 2022-11-03T22:14:11Z
2022-10-05
2022-10-05T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10362/145222
url http://hdl.handle.net/10362/145222
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2296-2360
PURE: 47543544
https://doi.org/10.3389/fped.2022.1017195
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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