HHV-8-associated Kaposi sarcoma in a child with IFNγR1 deficiency
HHV-8-associated Kaposi sarcoma in a child with IFNγR1 deficiency
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DOI：
10.1016/j.jpeds.2003.11.012
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发表时间：
2004-04-01
影响因子：
5.1
通讯作者：
Casanova, JL
中科院分区：
文献类型：
--
作者：
Camcioglu, Y;Picard, C;Casanova, JL
地中海经典型卡波西肉瘤（KS）是一种罕见的儿童肿瘤，其发病原因不明.我们的目的是描述的情况下，一个孩子完全IFNgammaRI 1缺乏症和严重的分枝杆菌病，其中卡波西肉瘤（KS）developed.Results播散myeobacterial感染开始在5个月的年龄，并在11岁的孩子播散KS病变。这些病变的组织学表现是典型的，具有内皮细胞和梭形细胞增殖。免疫组化原位检测人疱疹病毒8型（HHV-8）相关抗原。从组织病变中扩增K1分子亚型A的HHV-8 DNA，并在患者血清中检测到HHV-8特异性抗体。该儿童死于12岁的播散性分枝杆菌病和KS.Conclusions这是第一次确定一个明确的原发性免疫缺陷的儿童KS。IFN-γ介导的免疫遗传性疾病和严重的分枝杆菌病可能使HHV-8感染的儿童易患KS。
Objectives Mediterranean classic Kaposi sarcoma (KS) of childhood is rare and unexplained. Our objective is to describe the case of a child with complete IFNgammaRI1 deficiency and severe mycobacterial disease in whom Kaposi sarcoma (KS) developed.Results Disseminated myeobacterial infection began at the age of 5 months, and at 11 years of age the child had disseminated KS lesions. The histologic appearance of these lesions was typical, with endothelial and spindle cell proliferation. Human herpesvirus-8 (HHV-8) -associated antigens were detected in situ by immunohistochemistry. HHV-8 DNA of K1 molecular subtype A was amplified from tissue lesions, and HHV-8-specific antibodies were detected in the patient's serum. The child died at 12 years of age of disseminated mycobacterial disease and KS.Conclusions This is the first identification of a well-defined primary immunodeficiency in a child with KS. Inherited disorders of IFN-gamma-mediated immunity and severe mycobacterial disease may predispose HHV-8-infected children to KS.