Publication
Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family
| dc.contributor.author | Marujo, F | |
| dc.contributor.author | Costa, LC | |
| dc.contributor.author | Duarte, R | |
| dc.contributor.author | Brito, MJ | |
| dc.contributor.author | Cordeiro, A | |
| dc.contributor.author | Neves, C | |
| dc.contributor.author | Neves, JF | |
| dc.date.accessioned | 2021-04-30T13:55:48Z | |
| dc.date.available | 2021-04-30T13:55:48Z | |
| dc.date.issued | 2019 | |
| dc.description.abstract | Although bacterial meningitis is a rare presentation of a congenital immunodeficiency, invasive meningococcal disease is classically associated with complement deficiencies. We report a patient from a consanguineous kindred presenting with an invasive meningococcal disease caused by serogroup B meningococcus that revealed an underlying C5 deficiency caused by a novel mutation in the C5 gene. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Pediatr Infect Dis J . 2019 Apr;38(4):416-418 | pt_PT |
| dc.identifier.doi | 10.1097/INF.0000000000002149 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/3678 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Wolters Kluwer Health | pt_PT |
| dc.subject | Child | pt_PT |
| dc.subject | Complement C5 | pt_PT |
| dc.subject | Female | pt_PT |
| dc.subject | Humans | pt_PT |
| dc.subject | Meningitis, Meningococcal | pt_PT |
| dc.subject | Mutant Proteins | pt_PT |
| dc.subject | Neisseria meningitidis, Serogroup B | pt_PT |
| dc.subject | Portugal | pt_PT |
| dc.subject | Family Health | pt_PT |
| dc.subject | Genetic Predisposition to Disease | pt_PT |
| dc.subject | HDE INF PED | pt_PT |
| dc.subject | HDE PED | pt_PT |
| dc.subject | HDE CIR PED | pt_PT |
| dc.title | Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 418 | pt_PT |
| oaire.citation.issue | 4 | pt_PT |
| oaire.citation.startPage | 416 | pt_PT |
| oaire.citation.title | The Pediatric infectious disease journal | pt_PT |
| oaire.citation.volume | 38 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
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