Iranian Journal of Immunology

Perforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis

Document Type : Case Report

Authors

Hamid Galehdari 1, 2
Ebrahim Mohammadi 3
Behnaz Andashti 1
Ali Naderi 2
Mohammad Ali Molavi 2

1 Department of Genetics, School of Science, Shahid Chamran University of Ahwaz, Iran

2 Research center for Thalassemia and Hemoglobinopathy of Ahwaz

3 Department of Pharmacology and Toxicology, School of Pharmacy, Ahwaz Jondishapour University of Medical Sciences, Iran

https://doi.org/10.22034/iji.2007.17189
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 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.

Keywords

Familial Hemophagocytic Lymphohistiocytosis
Perforin gene
Cytotoxic T lymphocytes
Iranian Journal of Immunology
Volume 4, Issue 2
Spring 2007
Pages 122-126

Home

Guide for Authors

Submit Manuscript

Guide for Reviewers

Contact Us