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  • Title: Hemophagocytic lymphohistiocytosis: diagnosis, pathophysiology, treatment, and future perspectives.
    Author: Verbsky JW, Grossman WJ.
    Journal: Ann Med; 2006; 38(1):20-31. PubMed ID: 16448985.
    Abstract:
    Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening disease in which the immune system becomes overactive due to its inability to effectively respond to infections and/or shut down the immune response to such infections. The discovery of genetic defects in the secretory pathway of natural killer (NK) cells and cytotoxic T cells in some patients with this disease has raised important questions of the role of cytotoxic cells in the control of infections and in immune regulation. This review will give a brief overview of the clinical presentation and accepted treatment of HLH. Furthermore, it will give an in-depth review into the known genetic defects and current knowledge of the pathophysiology of this disorder, and will highlight recent evidence suggesting that cytotoxic defects in CD4+ T regulatory cells may contribute to the pathogenesis of HLH.
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