Lymphocytic Vasculitis Involving the Central Nervous System Occurs in Patients With X-Linked Lymphoproliferative Disease in the Absence of Epstein-Barr Virus Infection

作者：Talaat Kawsar R; Rothman Jennifer A; Cohen Jeffrey I; Santi Mariarita; Choi John K; Guzman Miguel; Zimmerman Robert; Nal****my Sudha; Brucker Alexander; Quezado Martha; Pittaluga Stefania; Patronas Nicholas J; Klion Amy D; Nichols Kim E^*

来源：Pediatric Blood and Cancer, 2009, 53(6): 1120-1123.

DOI：10.1002/pbc.22185

• central nervous system
• vasculitis
• X-linked lymphoproliferative disease

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, hypogamma-globulinemia 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. Pediatr Blood Cancer 2009;53:1120-1123.

• 出版日期2009-12-1