X-Linked Lymphoproliferative Disease in an Adult

Abstract

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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Correspondence to Takumi Hoshino or Hirokazu Kanegane or Noriko Doki or Hiroyuki Irisawa or Tohru Sakura or Yoshihisa Nojima or Shuichi Miyawaki or Toshio Miyawaki.

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Hoshino, T., Kanegane, H., Doki, N. et al. X-Linked Lymphoproliferative Disease in an Adult. Int J Hematol 82, 55–58 (2005). https://doi.org/10.1532/IJH97.05020

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Key words

  • X-linked lymphoproliferative disease
  • Epstein-Barr virus
  • SLAM-associated protein
  • Adult
  • Th1/Th2