X-Linked Lymphoproliferative Disease in an Adult

被引：0
作者：
Takumi Hoshino
Hirokazu Kanegane
Noriko Doki
Hiroyuki Irisawa
Tohru Sakura
Yoshihisa Nojima
Shuichi Miyawaki
Toshio Miyawaki
机构：
[1] Gunmaken Saiseikai Maebashi Hospital,Division of Hematology
[2] Toyama Medical and Pharmaceutical University,Department of Pediatrics, Faculty of Medicine
[3] Gunma University Graduate School of Medicine,Department of Medicine and Clinical Science
来源：
International Journal of Hematology | 2005年 / 82卷
关键词：
X-linked lymphoproliferative disease; Epstein-Barr virus; SLAM-associated protein; Adult; Th1/Th2;
D O I：
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中图分类号：
学科分类号：
摘要：
X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterized by an extreme susceptibility to Epstein-Barr virus (EBV) infection. Patients with XLP mainly present with the 3 clinical manifestations of fulminant infectious mononucleosis, lymphoproliferative disorder, and dysgammaglobulinemia and in rare cases have aplastic anemia and lymphocytic vasculitis.The causative gene for XLP was identified asSH2D1A/DSHP/SLAM-associated protein (SAP) in 1998, and genetic analysis has been used for the definite diagnosis of XLP. Diagnosis for most patients occurs at ages younger than 10 years, and there are few adult patients. Here we describe a 23-year-old man with hypogammaglobulinemia and EBV-associated hemophagocytic lymphohistiocytosis and a diagnosis of XLP. In addition, the patient showed type 1 helper T-cell (Th1) skewing, as has been described inSap knock-out mice. Th1/Th2 imbalance in humans, as well as in mice, may play an important role in the pathogenesis of XLP.
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页码：55 / 58
页数：3
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