Article
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.
British journal of haematology - 1 Jun 2002
Feldmann Jérôme, Le Deist Françoise, Ouachée-Chardin Marie, Certain Stéphanie, Alexander Sarah, Quartier Pierre, Haddad Elie, Wulffraat Nico, Casanova Jean Laurent, Blanche Stéphane, Fischer Alain, de Saint Basile Geneviève
Abstract excerpt
Familial haemophagocytic lymphohistiocytosis (FHL), an inherited form of haemophagocytic lymphohistiocytosis (HLH) syndrome, is characterized by the overwhelming activation of T lymphocytes and macrophages invariably leading to death in the absence of treatment. FHL is a heterogeneous autosomal recessive disorder, with one known causative gene which codes for perforin, a cytotoxic effector protein. In this study,...
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