X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis

Hirokazu Kanegane, Yoshikiyo Ito, Koichi Ohshima, Takeshi Shichijo, Kunio Tomimasu, Keiko Nomura, Takeshi Futatani, Ryo Sumazaki, Toshio Miyawaki

研究成果: Contribution to journalArticle査読

34 被引用数 (Scopus)


X-linked lymphoproliferative syndrome (XLP) is a rare, often fatal, primary immunodeficiency disease characterized by an abnormal response to Epstein-Barr virus (EBV) infection. The gene responsible for XLP has been identified as SH2D1A/DSHP/SLAM-associated protein (SAP). The major clinical manifestations include fulminant infectious mononucleosis, lymphoproliferative disorder, and dysgammaglobulinemia. Affected males uncommonly present with lymphocytic vasculitis in addition to aplastic anemia. In this study, we describe a Japanese XLP patient who presented with hypogammaglobulinemia following acute EBV-induced infectious mononucleosis in the infancy and later had systemic lymphocytic vasculitis and hemophagocytic lymphohistiocytosis in the adulthood, which resolved by steroid pulse therapy. The patient's SAP gene was found to harbor a missense mutation (His8Asp), presumably resulting in defective expression of SAP in T cells. Biopsy specimens of lung and skin disclosed that CD8+ T cells predominantly infiltrated vascular vessels. However, immunohistochemical examination showed that EBV-infected cells were not identifiable in the vessels. We propose that T-cell-mediated immune dysregulation in XLP can cause vasculitis by EBV infection-unrelated mechanism.

ジャーナルAmerican Journal of Hematology
出版ステータス出版済み - 2 2005

All Science Journal Classification (ASJC) codes

  • 血液学


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