Perforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis
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.
Galehdari
Hamid
H
Department of Biology, School of Science, Shahid Chamran University of Ahwaz, Iran.
Mohammadi
Ebrahim
E
Andashti
Behnaz
B
Naderi
Ali
A
Molavi
Mohammad Ali
MA
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*
C510468:PRF1 protein, human; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin