Immunodeficiency in Vici syndrome: A heterogeneous phenotype
Immunodeficiency in Vici syndrome: A heterogeneous phenotype
复制标题
DOI：
10.1002/ajmg.a.34244
复制
发表时间：
2012-02-01
影响因子：
2
通讯作者：
Dionisi-Vici, Carlo
中科院分区：
文献类型：
--
作者：
Finocchi, Andrea;Angelino, Giulia;Dionisi-Vici, Carlo
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. (C) 2011 Wiley Periodicals, Inc.
