New Genetic Cause Of A Fatal Immune Disorder, Geneviève de Saint Basile Research
11/3/2009 7:58:10 AM
EurekAlert -- Familial hemophagocytic lymphohistiocytosis (FHL) is an inherited, fatal, immune disorder characterized by uncontrolled activation of immune cells known as lymphocytes and macrophages. Disease-causing mutations have been identified in several genes that generate proteins involved in lymphocyte-mediated cell death, including syntaxin-11. Now, Geneviève de Saint Basile and colleagues, at INSERM U768, France, have added a new gene to this list by determining that two distinct mutations in the gene that generates syntaxin-binding protein 2 (Munc18-2; also known as STXBP2) cause disease in a subset of patients with FHL; this form of the disease was then termed 'FHL5'.