Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency.
J Investig Allergol Clin Immunol
; 20(3): 255-8, 2010.
Article
em En
| MEDLINE
| ID: mdl-20635792
Hereditary complete deficiency of complement component C1q is associated with a high prevalence of systemic lupus erythematosus and increased susceptibility to severe recurrent infections. An 11-year-old girl was screened for immunodeficiency due to a history of recurrent meningitis and pneumonia. Immunologic studies revealed absence of classic pathway hemolytic activity and undetectable levels of Clq. Exon-specific amplification of genomic DNA by polymerase chain reaction followed by direct sequence analysis revealed a novel homozygous missense mutation at codon 48 in the C1q C gene causing a glycine-to-arginine substitution affecting the collagen-like region of C1q. No changes were seen in the exons of the A and B chains. The mutation affected both the formation and the secretion of C1q variant molecules. We describe a novel mutation in the C1q C chain gene that leads to an interchange in amino acids resulting in absence of C1q in serum.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Complemento C1q
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Investig Allergol Clin Immunol
Assunto da revista:
ALERGIA E IMUNOLOGIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Turquia