title: Perforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis
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 absent in FHL patients. We report the first cases of familial hemophagocytic lymphohistiocytosis in an Iranian family with two siblings. Exons 2 and 3 of the PRF1 gene were analyzed by polymerase chain reaction (PCR) amplification and direct sequencing. Perforin gene mutation(s) were detected in none of the cases. The result of our study indicates that not much evidence is present concerning a correlation between perforin gene defects and familial hemophagocytic lymphohistiocytosis etiology in these cases.
authors.affiliation: Department of Biology, School of Science, Shahid Chamran University of Ahwaz, Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Galehdari
authors.forename: Ebrahim
authors.initials: E
authors.lastname: Mohammadi
authors.forename: Behnaz
authors.initials: B
authors.lastname: Andashti
authors.forename: Ali
authors.initials: A
authors.lastname: Naderi
authors.forename: Mohammad Ali
authors.initials: MA
authors.lastname: Molavi
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007492:Iran; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics*
chemical_list: C510468:PRF1 protein, human; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin