Article
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation.
The Journal of pediatrics - 1 Jul 2006
Lee Susan Molleran, Sumegi Janos, Villanueva Joyce, Tabata Yasuhiro, Zhang Kejian, Chakraborty Ranajit, Sheng Xiaohua, Clementi Rita, de Saint Basile Genevieve, Filipovich Alexandra H
Abstract excerpt
Mutations of the perforin gene (PRF1) are present in a proportion of patients with hemophagocytic lymphohistiocytosis (HLH). We found that all identified infants with HLH of African descent (17 from USA, 4 from Europe) have 50delT-PRF1 (16 homozygotes, 5 compound heterozygotes), accounting for the most frequently observed PRF1 mutation. Two additional patients with HLH, self-reporting as Hispanic, carried 50delT,...
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