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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Talaat, KR; Rothman, JA; Cohen, JI; Santi, M; Choi, JK; Guzman, M; Zimmerman, R; Nallasamy, S; Brucker, A; Quezado, M; Pittaluga, S; Patronas, NJ; Klion, AD; Nichols, KE

Published Date

  • December 2009

Published In

Volume / Issue

  • 53 / 6

Start / End Page

  • 1120 - 1123

PubMed ID

  • 19621458

Pubmed Central ID

  • PMC2745493

Electronic International Standard Serial Number (EISSN)

  • 1545-5017

Digital Object Identifier (DOI)

  • 10.1002/pbc.22185


  • eng

Conference Location

  • United States