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

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Detalhes bibliográficos
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.
Autores principais:Coelho, Pedro Simão
Outros Autores:Gouveia, Catarina; Pinto, Marta Valente; Neves, Conceição; Cordeiro, Ana Isabel; Neves, João Farela
Assunto:C3 deficiency C3 gene mutation complement deficiency primary immunodeficiency recurrent infections Pediatrics, Perinatology, and Child Health
Ano:2022
País:Portugal
Tipo de documento:artigo
Tipo de acesso:acesso aberto
Instituição associada:Universidade Nova de Lisboa
Idioma:inglês
Origem:Repositório Institucional da UNL
Descrição
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.