Publication
Recurrent Pyogenic Infections Caused by a Movel Gln1420* Mutation in the C3 Gene
| dc.contributor.author | Coelho, PS | |
| dc.contributor.author | Gouveia, C | |
| dc.contributor.author | Pinto, MV | |
| dc.contributor.author | Neves, C | |
| dc.contributor.author | Cordeiro, AI | |
| dc.contributor.author | Neves, JF | |
| dc.date.accessioned | 2022-12-29T11:23:48Z | |
| dc.date.available | 2022-12-29T11:23:48Z | |
| dc.date.issued | 2022 | |
| dc.description.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. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Front Pediatr . 2022 Oct 5;10:1017195 | pt_PT |
| dc.identifier.doi | 10.3389/fped.2022.1017195 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/4334 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | PubMed Central | pt_PT |
| dc.subject | C3 deficiency | pt_PT |
| dc.subject | C3 gene mutation | pt_PT |
| dc.subject | Primary immunodeficiency | pt_PT |
| dc.subject | Recurrent infections | pt_PT |
| dc.subject | HDE INF PED | pt_PT |
| dc.title | Recurrent Pyogenic Infections Caused by a Movel Gln1420* Mutation in the C3 Gene | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.startPage | 1017195 | pt_PT |
| oaire.citation.title | Frontiers in Pediatrics | pt_PT |
| oaire.citation.volume | 10 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |