1Department of Genetics, School of Science, Shahid Chamran University of Ahwaz, Iran
2Research center for Thalassemia and Hemoglobinopathy of Ahwaz
3Department of Pharmacology and Toxicology, School of Pharmacy, Ahwaz Jondishapour University of Medical Sciences, Iran
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.