Immunodeficiency in Vici syndrome: a heterogeneous phenotype.
Am J Med Genet A
; 158A(2): 434-9, 2012 Feb.
Article
em En
| MEDLINE
| ID: mdl-21965116
ABSTRACT
Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities. Recurrent infections, mainly affecting the respiratory tract, have been reported in the majority of cases, representing an important risk factor for morbidity and mortality. The immunological phenotype of patients is extremely variable, ranging from a combined immunodeficiency to nearly normal immunity. We report on a new patient with Vici syndrome, in whom we have extensively investigated immunological features. Despite a mild impairment of the cellular compartment, a defect of humoral immunity was found, requiring treatment with intravenous immunoglobulin. A wider knowledge of immune system abnormalities of Vici syndrome will help to plan strategies for treatment and prevention of infections, such as immunoglobulin replacement and antimicrobial prophylaxis, resulting in improved survival rates.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Catarata
/
Corpo Caloso
/
Agamaglobulinemia
/
Imunidade Humoral
/
Agenesia do Corpo Caloso
/
Síndromes de Imunodeficiência
Tipo de estudo:
Risk_factors_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Itália