X-linked lymphoproliferative syndrome

X-linked lymphoproliferative syndrome is a hereditary disease of the immune system that causes an inadequate immune response to EBV (Epstein-Barr virus) infection.

EBV infection results in excess production and activation of T cells and macrophages, which can result in serious complications of the infection: fulminant infectious mononucleosis, hemophagocytic lymphohistiocytosis, progressive hypogammaglobulinemia and / or lymphomas.

The disorder is based in 60% of cases on a mutation of the SH2DIA gene, which regulates the activation of T lymphocytes. Other possible mutations are in the XIAP gene.

X-linked lymphoproliferative syndrome is a hereditary disease of the immune system that causes an inadequate immune response to EBV infection.

EBV infection causes excessive production and activation of T cells and macrophages, which can result in serious complications of the infection: fulminant infectious mononucleosis, hemophagocytic lymphohistiocytosis , progressive hypogammaglobulinemia and / or lymphomas.

60% of the disease is due to a mutation in the SH2DIA gene, which regulates the activation of T lymphocytes. Other possible mutations are in the XIAP gene. & Nbsp;