Tehran University of Medical Sciences Iranian Journal of Allergy, Asthma and Immunology 1735-1502 12 1 2013 03 15 86 92 EN Zahra Alizadeh Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Mohammad Reza Fazlollahi Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Massoud Houshmand National Institutes for Genetics Engineering and Biotechnology, Tehran, Iran Marzieh Maddah Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Zahra Chavoshzadeh Pediatric Infectious Research Center, Mofid Children Hospital, Shahid Beheshti Medical University, Tehran, Iran Amir Ali Hamidieh Hematology, Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran Bibi Shahin Shamsian Pediatric Congenital Hematologic Disorders Research Center, Shahid Beheshti University of Medical Sciences.Tehran, Iran Payman Eshghi Pediatric Congenital Hematologic Disorders Research Center, Shahid Beheshti University of Medical Sciences.Tehran, Iran Samaneh Bolandghamat Pour Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Hoda Sadaaie Jahromi Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Mahboobeh Mansouri Department of Immunology and Allergy, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Masoud Movahedi Department of Allergy and Clinical Immunology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran Mohsen Nayebpour Department of Pharmacology and Toxicology, Faculty of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran Zahra Pourpak Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Department of Allergy and Clinical Immunology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran Mostafa Moin Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Department of Allergy and Clinical Immunology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran 2015 10 16 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. https://ijaai.tums.ac.ir/index.php/ijaai/article/view/529 https://ijaai.tums.ac.ir/index.php/ijaai/article/download/529/475