Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature

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• 作者：Katherine Huenerberg ; Michelle Hudspeth ; Shayla Bergmann ; Shashidhar Pai ; Balvir Singh and Angie Duong
• 关键词：Vici syndrome ; Idiopathic Thrombocytopenic Purpura (ITP) ; EPG5
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：170
• 期：5
• 页码：1343-1346
• 全文大小：401K
• ISSN：1552-4833

文摘

Vici syndrome is a rare congenital disorder first described in 1988. To date, 31 cases have been reported in the literature. The characteristic features of this syndrome include: agenesis of the corpus callosum, albinism, cardiomyopathy, variable immunodeficiency, cataracts, and myopathy. We report two Hispanic sisters with genetically confirmed Vici syndrome who both developed Idiopathic Thrombocytopenic Purpura. To our knowledge, this is an immunologic process that has been previously undescribed within the phenotype of Vici syndrome and should be added to the spectrum of variable immune dysregulation that can be found in these patients.