Autoimmunizacyjny zespół limfoproliferacyjny u chłopca z mutacją genu Fas/CD95

Małgorzata Pac¹, Ewa Bernatowska¹, Janina Piotrowska-Jastrzębska²

Streszczenie
To maintance the right health of organism it is of great importance to keep the proper homeostasis of immune system, and to eliminate the autoreactive cells. These cells attack the owns tissue of host and play a very significant role in patogenesis of autoimmune diseases. There are many factors to be considered as fluencing this process, ie.: presence of some molecules of major histocompatibility complex (MHC), level of sex hormones, infections, environmental agents. The maintance of proper homeostasis requires that the lymphocytes expansion be appropriately balanced by lymphocyte elimination or death. Apoptosis is an active process of cell suicide that, upon the death of the cell, does not result in inflammatory response. All lineages of blood cells undergo apoptosis. The apoptosis pathway defects can result in expansion of activated T cells and autoimmune process. The experimental models of such defects in animals have been known for years. Recently, the apoptosis defects in human have been described. One of them is the Fas gene defect. The case of 7 yo boy with autoimmune hemolytic anemia, and thrombocytopenia, and chronic EBV infection, and gene Fas mutation has been described.

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