Author/Authors :
Alizadeh, Zahra Immunology Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Fazlollahi, Mohammad Reza Immunology Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Houshmand, Massoud National Institutes for Genetics Engineering and Biotechnology, Tehran , Maddah, Marzieh Immunology Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Chavoshzadeh, Zahra Pediatric Infectious Research Center - Mofid Children Hospital - Shahid Beheshti Medical University, Tehran , Hamidieh, Amir Ali Hematology Oncology and Stem Cell Transplantation Research Center - Tehran University of Medical Sciences, Tehran , Shamsian, Bibi Shahin Pediatric Congenital Hematologic Disorders Research Center - Shahid Beheshti University of Medical Sciences, Tehran , Eshghi, Payman Pediatric Congenital Hematologic Disorders Research Center - Shahid Beheshti University of Medical Sciences, Tehran , Bolandghamat Pour, Samaneh Immunology Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Sadaaie Jahromi, Hoda Immunology Asthma and Allergy Research Institute - Tehran University of Medical Sciences, Tehran , Mansouri, Mahboobeh Department of Immunology and Allergy - Mofid Children Hospital - Shahid Beheshti University of Medical Sciences, Tehran , Movahedi, Masoud Department of Allergy and Clinical Immunology - Children’s Medical Center - Tehran University of Medical Sciences, Tehran , Nayebpour, Mohsen Department of Pharmacology and Toxicology - Faculty of Pharmacy - Tehran University of Medical Sciences, Tehran , Pourpak, Zahra Department of Allergy and Clinical Immunology - Children’s Medical Center - Tehran University of Medical Sciences, Tehran , Moin, Mostafa Department of Allergy and Clinical Immunology - Children’s Medical Center - Tehran University of Medical Sciences, Tehran
Abstract :
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency disease.
Different genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1,
G-CSFR and G6PC3. The aim of this study was to find different gene mutations
responsible for SCN in Iranian patients.
Twenty-seven patients with SCN referred to Immunology, Asthma and Allergy
Research Institute during a five year priod 5 years (May 2007 and May 2012), were
included in this study. Neutropenia related exons and flanking regions of ELA2, HAX1,
WAS, GFI1, G-CSFR and G6PC3 were amplified by PCR and the sequences were
analyzed.
The results showed different mutations including 4 ELANE mutations, 11 HAX1
mutations and 2 G6PC3 mutations. None of the patients had GFI1 mutation and also one
mutation was found in G-CSFR in a patient with ELANE mutation. Ten patients had
unknown genetic diagnosis which was compatible with other studies.
According to these results, most of the patients showed HAX1 mutations and this finding
which significantly differed from other reports, might be related to differences in Iranian
ethnicity and also in high rate of consanguineous marriages in Iran.
