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1. Perforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis

Hamid Galehdari; Ebrahim Mohammadi; Behnaz Andashti; Ali Naderi; Mohammad Ali Molavi

Volume 4, Issue 2 , Spring 2007, , Pages 122-126

Abstract
  Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an immune disorder of infancy and early childhood. Cytotoxic T and natural killer (NK) cell activities are remarkably reduced or ab-sent in FHL patients. We report the first ...  Read More