different pattern of gene mutations in iranian patients with severe congenital neutropenia (including 2 new mutations).

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.