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(Ivanhoe Newswire) -- Researchers have discovered a new genetic cause of an inherited and fatal immune disorder.
Familial hemophagocytic lymphohistiocytosis (FHL) is rare disorder that is developed when a baby inherits defective genes from both their mother and father. It usually appears early in life. So far, the only lasting cure for FHL is bone marrow transplantation.
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FHL causes lymphocytes and macrophages, or immune cells, to activate uncontrollably. It was previously known that several genes responsible for generating proteins that play a role in lymphocyte-mediated cell death are related to the disorder, but now, researchers in France have added a new gene to that list.
Two mutations (STXBP2) of the new gene have been shown to cause disease in a subset of patients with FHL. Specifically, the mutations prevent the release of death-inducing molecules from immune cells.
Source: Journal of Clinical Investigation, November 2, 2009
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