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Galehdari, Hamid, Mohammadi, Ebrahim, Andashti, Behnaz, Naderi, Ali, Molavi, Mohammad Ali. (1386). Perforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis. سامانه مدیریت نشریات علمی, 4(2), 122-126.
Hamid Galehdari; Ebrahim Mohammadi; Behnaz Andashti; Ali Naderi; Mohammad Ali Molavi. "Perforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis". سامانه مدیریت نشریات علمی, 4, 2, 1386, 122-126.
Galehdari, Hamid, Mohammadi, Ebrahim, Andashti, Behnaz, Naderi, Ali, Molavi, Mohammad Ali. (1386). 'Perforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis', سامانه مدیریت نشریات علمی, 4(2), pp. 122-126.
Galehdari, Hamid, Mohammadi, Ebrahim, Andashti, Behnaz, Naderi, Ali, Molavi, Mohammad Ali. Perforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis. سامانه مدیریت نشریات علمی, 1386; 4(2): 122-126.

Perforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis

Iranian Journal of Immunology
مقاله 8، دوره 4، شماره 2، شهریور 2007، صفحه 122-126    اصل مقاله (71.45 K)
نوع مقاله: Case Report
نویسندگان
Hamid Galehdari1، 2؛ Ebrahim Mohammadi* 3؛ Behnaz Andashti1؛ Ali Naderi2؛ Mohammad Ali Molavi2
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
چکیده
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.
کلیدواژه‌ها
Familial Hemophagocytic Lymphohistiocytosis؛ Perforin gene؛ Cytotoxic T lymphocytes
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