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

Full 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.

Author information

Author/s: Talaat, Kawsar R (KR); Rothman, Jennifer A (JA); Cohen, Jeffrey I (JI); Santi, Mariarita (M); Choi, John K (JK); Guzman, Miguel (M); Zimmerman, Robert (R); Nallasamy, Sudha (S); Brucker, Alexander (A); Quezado, Martha (M); Pittaluga, Stefania (S); Patronas, Nicholas J (NJ); Klion, Amy D (AD); Nichols, Kim E (KE);

Affiliation: Laboratory of Parasitic Diseases, National Institutes of Health, Bethesda, Maryland, USA.

Journal and publication information

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

Journal: Pediatric blood & cancer (Pediatr Blood Cancer), published in United States. (Language: eng)

Reference: 2009-Dec; vol 53 (issue 6) : pp 1120-3

Dates: Created 2009/09/16; Completed 2009/10/13;

PMID: 19621458, status: MEDLINE (last retrieval date: 10/13/2009, IMS Date: )

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