X-linked lymphoproliferative syndrome, EBV virus infection and defects in cytotoxicity lymphocyte regulation
Malbrán, A.; Belmonte, L.; Ruibal-Ares, B.; Baré, P.; Bracco, M.ía.M.E.
Medicina 63(1): 70-76
2003
ISSN/ISBN: 0025-7680 PMID: 12673966 Document Number: 553503
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.