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Blood, 15 August 2001, Vol. 98, No. 4, pp. 1268-1270
BRIEF REPORT
SH2D1A mutations in Japanese males with severe
Epstein-Barr virus-associated illnesses
Ryo Sumazaki,
Hirokazu Kanegane,
Maki Osaki,
Takashi Fukushima,
Masahiro Tsuchida,
Hiroyoshi Matsukura,
Kentaro Shinozaki,
Hiroshi Kimura,
Akira Matsui, and
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.
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 SH2D1A
mutations. 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.
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