Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection

Kawsar R. Talaat, Jennifer A. Rothman, Jeffrey I. Cohen, Mariarita Santi, John K. Choi, Miguel Guzman, Robert Zimmerman, Sudha Nallasamy, Alexander Brucker, Martha Quezado, Stefania Pittaluga, Nicholas J. Patronas, Amy D. Klion, Kim E. Nichols

Research output: Contribution to journalArticlepeer-review

Abstract

X-linked lymphoproliferative disease (XLP) is an immunodeficiency caused by defects in the adaptor molecule SAP. The manifestations of XLP generally occur following Epstein-Barr virus (EBV) infection and include fulminant mononucleosis, hypogammaglobulinemia and lymphoma. In this report, we describe two unrelated patients with fatal T-cell-mediated central nervous system vasculitis for whom repeated serologic and molecular testing for EBV was negative. In both patients, clonal T-cell populations were observed, but neither demonstrated evidence of lymphoma. Thus, loss of SAP function can lead to dysregulated immune responses characterized by the uncontrolled expansion and activation of T cells independent of EBV infection.

Original languageEnglish (US)
Pages (from-to)1120-1123
Number of pages4
JournalPediatric Blood and Cancer
Volume53
Issue number6
DOIs
StatePublished - 2009

Keywords

  • Central nervous system
  • Vasculitis
  • X-linked lymphoproliferative disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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