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 ab-sent in fhl patients. we report the first cases of familial hemophagocytic lymphohistiocy-tosis 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 mu-tation(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 he-mophagocytic lymphohistiocytosis etiology in these cases.