Abstract

MALBRAN, A. et al. X-linked lymphoproliferative syndrome, EBV infection and impaired regulation of cell-mediated cytotoxicity. Medicina (B. Aires) [online]. 2003, vol.63, n.1, pp.70-76. ISSN 0025-7680.

Mutations in SH2D1A, a gene that codifies for the regulatory protein SAP, result in uncontrolled activation of the SLAM (signaling lymphocyte-activation molecule) pathway. This X-linked immunodeficiency becomes evident when the patients are infected with Epstein Barr virus (EBV) and develop a fulminant form of infectious mononucleosis leading to a lymphoproliferative syndrome that is often fatal (X-linked lymphoproliferative syndrome, XLP). In those who survive,  hypogammaglobulinemia and oncohematologic diseases are frequently observed. In this revision, the immuno-regulatory mechanisms involved in XLP immunopathology and the role of different effector cells (CD8 T lymphocytes, NK cells) are discussed.

Keywords : XLP; SAP; SLAM; EBV; NK activity; 2B4.

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