Article
Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity.
Blood - 1 Apr 2005
Feldmann Jérôme, Ménasché Gaël, Callebaut Isabelle, Minard-Colin Véronique, Bader-Meunier Brigitte, Le Clainche Laurence, Fischer Alain, Le Deist Françoise, Tardieu Marc, de Saint Basile Geneviève
Abstract excerpt
Mutations in the perforin gene cause familial hemophagocytic lymphohistiocytosis (FHL). The first symptoms of FHL are usually intractable fever, hepatosplenomegaly, and pancytopenia. Most FHL patients subsequently develop central nervous system (CNS) manifestations due to infiltration of tissues by activated lymphocytes and macrophages. We report 2 FHL patients with an atypical phenotype characterized by isolated...
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