SH2D1A mutations in Japanese males with severe Epstein-Barr virus–associated illnesses

• Ryo Sumazaki

  From the Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Japan; Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan; Department of Pediatrics, Ibaraki Children's Hospital, Japan; and Department of Pediatrics, Research Institute for Disease Mechanism and Control, Nagoya University School of Medicine, Japan.

• Hirokazu Kanegane

  From the Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Japan; Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan; Department of Pediatrics, Ibaraki Children's Hospital, Japan; and Department of Pediatrics, Research Institute for Disease Mechanism and Control, Nagoya University School of Medicine, Japan.

• Maki Osaki

  From the Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Japan; Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan; Department of Pediatrics, Ibaraki Children's Hospital, Japan; and Department of Pediatrics, Research Institute for Disease Mechanism and Control, Nagoya University School of Medicine, Japan.

• Takashi Fukushima

  From the Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Japan; Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan; Department of Pediatrics, Ibaraki Children's Hospital, Japan; and Department of Pediatrics, Research Institute for Disease Mechanism and Control, Nagoya University School of Medicine, Japan.

• Masahiro Tsuchida

  From the Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Japan; Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan; Department of Pediatrics, Ibaraki Children's Hospital, Japan; and Department of Pediatrics, Research Institute for Disease Mechanism and Control, Nagoya University School of Medicine, Japan.

• Hiroyoshi Matsukura

  From the Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Japan; Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan; Department of Pediatrics, Ibaraki Children's Hospital, Japan; and Department of Pediatrics, Research Institute for Disease Mechanism and Control, Nagoya University School of Medicine, Japan.

• Kentaro Shinozaki

  From the Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Japan; Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan; Department of Pediatrics, Ibaraki Children's Hospital, Japan; and Department of Pediatrics, Research Institute for Disease Mechanism and Control, Nagoya University School of Medicine, Japan.

• Hiroshi Kimura

  From the Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Japan; Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan; Department of Pediatrics, Ibaraki Children's Hospital, Japan; and Department of Pediatrics, Research Institute for Disease Mechanism and Control, Nagoya University School of Medicine, Japan.

• Akira Matsui

  From the Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Japan; Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan; Department of Pediatrics, Ibaraki Children's Hospital, Japan; and Department of Pediatrics, Research Institute for Disease Mechanism and Control, Nagoya University School of Medicine, Japan.

• Toshio Miyawaki

  From the Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Japan; Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Japan; Department of Pediatrics, Ibaraki Children's Hospital, Japan; and Department of Pediatrics, Research Institute for Disease Mechanism and Control, Nagoya University School of Medicine, Japan.

抄録

X-linked lymphoproliferative disease (XLP), a genetic disorder characterized by immunodeficiency to Epstein-Barr virus (EBV) infection, has been linked to mutations in the SH2D1A gene. To search for the occurrence of SH2D1A mutations in Japan, we performed genetic analysis of the SH2D1A gene in 40 males presenting with severe EBV-associated illnesses, including fulminant infectious mononucleosis, EBV-positive lymphoma, and severe chronic active EBV infection. SH2D1A mutations were detected in 10 of these 40 patients. Five of these 10 cases were sporadic. Patients with SH2D1A mutations displayed severe acute infectious mononucleosis with hyperimmunoglobulin M, hypogammaglobulinemia, and B-cell malignant lymphoma. By contrast, chronic active EBV infection was not associated with SH2D1Amutations. XLP survivors exhibited normal levels of circulating EBV-DNA during convalescence, suggesting that SH2D1A protein is not directly responsible for control of EBV replication. Thus, genetic analysis of the SH2D1A gene is particularly useful in the diagnosis of sporadic cases and carriers of XLP.

収録刊行物

• Blood

  Blood 98 (4), 1268-1270, 2001-08-15

  American Society of Hematology

キーワード

• Cell Biology
• Hematology
• Immunology
• Biochemistry

詳細情報

• CRID: 1360574094678116736
• NII論文ID: 30022493927
• DOI: 10.1182/blood.v98.4.1268
• ISSN: 15280020
• ISSN: 00064971
• Web Site: http://ashpublications.org/blood/article-pdf/98/4/1268/1675906/h8160101268.pdf
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