Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.
J Clin Immunol
; 30(1): 121-31, 2010 Jan.
Article
em En
| MEDLINE
| ID: mdl-19904586
ABSTRACT
INTRODUCTION:
X-linked agammagobulinemia (XLA) is a primary immunodeficiency disorder caused by Bruton's tyrosine kinase (Btk) gene mutation. Recent studies suggested genotype-phenotype correlation in XLA, but a definitive association remains controversial. PATIENTS ANDMETHODS:
We examined the relationship between specific Btk gene mutations and severity of clinical presentation in 62 patients with XLA. Disease severity was assessed by the age of disease onset and the presence of severe infections, while mutations were classified into severe and mild based on structural and functional consequence by bioinformatics analysis.RESULTS:
Fifty-six Btk mutations were identified in 62 patients from 57 kindreds. Variation in phenotypes was observed, and there was a tendency of association between genotype and age of disease onset as well as occurrence of severe infections.CONCLUSION:
A critical analysis of the circumstances upon presentation also revealed that under-recognition of recurrent infections and relevant family history are important hurdles to timely diagnosis of XLA.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Tirosina Quinases
/
Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X
/
Infecções
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Clin Immunol
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
China