Article
Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease.
The journal of allergy and clinical immunology. In practice - 1 Jan 2000
Miano Maurizio, Madeo Annalisa, Cappelli Enrico, Lanza Federica, Lanza Tiziana, Stroppiano Marina, Terranova Paola, Venè Roberta, Bleesing Jack J H, Di Rocco Maja
Abstract excerpt
BACKGROUND: Gaucher disease (GD) is a rare disorder characterized by defective function of β-glucocerebrosidase, which leads to progressive accumulation of its substrate in various organs, particularly the mononuclear phagocyte system. Hepatosplenomegaly and cytopenia represent the disease's most common features, but patients with GD also show hyperinflammation, hypergammaglobulinemia, and immune dysregulation...
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