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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Article number	1017195
Journal	Frontiers in Pediatrics
Volume	10
DOIs	https://doi.org/10.3389/fped.2022.1017195
Publication status	Published - 5 Oct 2022
Externally published	Yes

Keywords

C3 deficiency
C3 gene mutation
complement deficiency
primary immunodeficiency
recurrent infections

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10.3389/fped.2022.1017195

Cite this

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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",

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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

Abstract

Keywords

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