Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.
Orphanet J Rare Dis
; 7: 42, 2012 Jun 18.
Article
em En
| MEDLINE
| ID: mdl-22710145
ABSTRACT
BACKGROUND:
Complement Factor I (CFI) is a serine protease with an important role in complement alternative pathway regulation. Complete factor I deficiency is strongly associated with severe infections. Approximately 30 families with this deficiency have been described worldwide. PATIENTS ANDMETHODS:
We have studied five new Spanish families suffering from CFI deficiency. From 19 screened people, 7 homozygous, 10 heterozygous and 2 healthy subjects were identified. Clinical, biochemical and genetic descriptions are included.RESULTS:
Molecular studies demonstrated 4 novel mutations in the screened individuals; amongst them, we describe here the first great gene deletion reported in the CFI locus, which includes full exon 2 and part of the large intron 1.CONCLUSION:
CFI deficiency is possibly an underestimated defect and the eventual existence of this deficiency should be tested in those patients exhibiting low C3 and recurrent bacterial infections. We propose a simple diagnostic flowchart to help clinicians in the identification and correct diagnosis of such patients.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Infecções Bacterianas
/
Deleção de Genes
/
Fator I do Complemento
/
Doenças Genéticas Inatas
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Orphanet J Rare Dis
Ano de publicação:
2012
Tipo de documento:
Article