Medicina (Buenos Aires)
versión On-line ISSN 1669-9106
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 1669-9106.
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.
Palabras llave : XLP; SAP; SLAM; EBV; NK activity; 2B4.