Genetic Link for Deadly Immune Disorder

(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.

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