Alizadeh Zahra, Fazlollahi Mohammad Reza, Houshmand Massoud, Maddah Marzieh, Chavoshzadeh Zahra, Hamidieh Amir Ali, Shamsian Bibi Shahin, Eshghi Payman, Bolandghamat Pour Samaneh, Sadaaie Jahromi Hoda, Mansouri Mahboobeh, Movahedi Masoud, Nayebpour Mohsen, Pourpak Zahra, Moin Mostafa
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Iran J Allergy Asthma Immunol. 2013 Mar;12(1):86-92.
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.
严重先天性中性粒细胞减少症（SCN）是一种罕见的原发性免疫缺陷疾病。已发现不同基因与SCN相关，包括ELA2、HAX1、WAS、GFI1、G-CSFR和G6PC3。本研究的目的是在伊朗患者中寻找导致SCN的不同基因突变。本研究纳入了在五年期间（2007年5月至2012年5月）转诊至免疫学、哮喘和过敏研究所的27例SCN患者。通过聚合酶链反应（PCR）扩增ELA2、HAX1、WAS、GFI1、G-CSFR和G6PC3的中性粒细胞减少症相关外显子及其侧翼区域，并对序列进行分析。结果显示了不同的突变，包括4个ELANE突变、11个HAX1突变和2个G6PC3突变。没有患者发生GFI1突变，并且在1例ELANE突变患者的G-CSFR中发现了1个突变。10例患者的基因诊断不明，这与其他研究结果相符。根据这些结果，大多数患者表现出HAX1突变，这一发现与其他报告有显著差异，可能与伊朗种族差异以及伊朗近亲结婚率高有关。
