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

doi:10.3389/fped.2022.1017195

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

Resultado de pesquisa: ???type-name??? › ???researchoutput.researchoutputtypes.contributiontojournal.article??? › revisão de pares

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Resumo

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.

Idioma original	???core.languages.en_GB???
Número do artigo	1017195
Revista	Frontiers in Pediatrics
Volume	10
DOIs	https://doi.org/10.3389/fped.2022.1017195
Estado da publicação	???researchoutput.status.published??? - 5 out. 2022
Publicado externamente	Sim

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title = "Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene",

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.",

keywords = "C3 deficiency, C3 gene mutation, complement deficiency, primary immunodeficiency, recurrent infections",

author = "Coelho, \{Pedro Sim{\~a}o\} and Catarina Gouveia and Pinto, \{Marta Valente\} and Concei{\c c}{\~a}o Neves and Cordeiro, \{Ana Isabel\} and Neves, \{Jo{\~a}o Farela\}",

note = "Publisher Copyright: 2022 Coelho, Gouveia, Pinto, Neves, Cordeiro and Neves.",

year = "2022",

month = oct,

day = "5",

doi = "10.3389/fped.2022.1017195",

language = "English",

volume = "10",

journal = "Frontiers in Pediatrics",

issn = "2296-2360",

publisher = "Frontiers Media SA",

}

TY - JOUR

T1 - Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene

AU - Coelho, Pedro Simão

AU - Gouveia, Catarina

AU - Pinto, Marta Valente

AU - Neves, Conceição

AU - Cordeiro, Ana Isabel

AU - Neves, João Farela

N1 - Publisher Copyright: 2022 Coelho, Gouveia, Pinto, Neves, Cordeiro and Neves.

PY - 2022/10/5

Y1 - 2022/10/5

N2 - 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.

AB - 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.

KW - C3 deficiency

KW - C3 gene mutation

KW - complement deficiency

KW - primary immunodeficiency

KW - recurrent infections

UR - https://www.scopus.com/pages/publications/85140382320

U2 - 10.3389/fped.2022.1017195

DO - 10.3389/fped.2022.1017195

M3 - Article

AN - SCOPUS:85140382320

SN - 2296-2360

VL - 10

JO - Frontiers in Pediatrics

JF - Frontiers in Pediatrics

M1 - 1017195

ER -

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

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