A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis.
J Clin Immunol
; 29(5): 691-5, 2009 Sep.
Article
em En
| MEDLINE
| ID: mdl-19434484
ABSTRACT
INTRODUCTION:
Complement component C8 is one of the five terminal complement components required for the formation of the membrane attack complex. Complete absence of C8 results in increased susceptibility to gram-negative bacteria such as Neisseria species. MATERIALS ANDMETHODS:
Two functionally distinct C8 deficiency states have been described C8 alpha-gamma deficiency has been predominantly reported amongst Afro-Caribbeans, Hispanics, and Japanese and C8beta mainly in Caucasians.RESULTS:
We report a case of functional and immunochemical deficiency of the complement component C8, diagnosed in a Caucasian adult following three episodes of meningitis. Western blotting and hemolytic assay demonstrated absence of C8beta. In genetic studies, the common exon 9 C > T transition responsible for 85% of C8beta deficiencies was not found. Two mutations were identified a novel duplication mutation, c.1047_1053 dupGGCTGTG in exon 7 that introduces a frame shift, resulting in the addition of seven novel amino acid residues and a premature stop codon, and a previously reported mutation, c.271C > T in exon 3. The parents each expressed one of these mutations, confirming compound heterozygosity.DISCUSSION:
This is the first report of a duplication mutation in C8beta deficiency and extends the molecular heterogeneity of the disorder.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Complemento C8
/
Síndromes de Imunodeficiência
/
Imunoterapia
/
Meningite Meningocócica
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
J Clin Immunol
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Reino Unido