Burden of copy number variation in common variable immunodeficiency.
Clin Exp Immunol
; 177(1): 269-71, 2014 Jul.
Article
em En
| MEDLINE
| ID: mdl-24329717
ABSTRACT
Common variable immunodeficiency (CVID) has been associated recently with a dramatic increase in total copy number variation burden, the cause of which is unclear. In order to explore further the origin and clinical relevance of this finding, we quantified the total genomic copy number variation (CNV) burden in affected patients and evaluated clinical details in relationship to total CNV burden. No correlation was found between total CNV burden and either patient age or time elapsed since symptom onset, and higher total burden did not correlate with incidence of malignancy or other subphenotypes. These findings suggest that the increased CNV burden is static and intrinsic to CVID as a disease.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Imunodeficiência de Variável Comum
/
Variações do Número de Cópias de DNA
Tipo de estudo:
Incidence_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Aged
/
Child
/
Child, preschool
/
Female
/
Humans
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Male
/
Middle aged
País/Região como assunto:
America do norte
Idioma:
En
Revista:
Clin Exp Immunol
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Estados Unidos