Alizadeh Zahra, Fazlollahi Mohammad Reza, Eshghi Payman, Hamidieh Amir Ali, Ghadami Mohsen, Pourpak Zahra
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Iran J Allergy Asthma Immunol. 2011 Sep;10(3):227-30.
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency. Different genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR. Also, recently G6PC3 as a rare gene in SCN has been reported. Patients with G6PC3 often have cardiac and/or urogenital malformations. Two patients with persistent severe neutropenia, recurrent infections and maturation arrest at promyelocyte-myelocyte stage in their bone marrow were assessed in this study. Both patients showed structural heart disease and one of them also showed urogenital anomaly. Sequence analyses of G6PC3 in 2 patients revealed two different homozygous mutations, one in exon 6 (Asn 313 fs), and the other in exon 3 (Ser 139 Met), the latter is a new mutation which has not been reported in previous studies. It can be concluded that G6PC3 is one of the responsible gene for SCN in Iranian patients. Based on the results, a new mutation in G6PC3 observed in one patient.
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病。已发现不同基因与SCN相关，包括ELA2、HAX1、WAS、GFI1、G-CSFR。此外，最近有报道称G6PC3是SCN中的一个罕见基因。携带G6PC3的患者常伴有心脏和/或泌尿生殖系统畸形。本研究评估了两名持续性严重中性粒细胞减少、反复感染且骨髓中早幼粒细胞-中幼粒细胞阶段成熟停滞的患者。两名患者均表现出结构性心脏病，其中一名还表现出泌尿生殖系统异常。对两名患者的G6PC3进行序列分析，发现了两种不同的纯合突变，一种在外显子6（Asn 313 fs），另一种在外显子3（Ser 139 Met），后者是一种新突变，此前研究中未报道过。可以得出结论，G6PC3是伊朗患者SCN的致病基因之一。基于这些结果，在一名患者中观察到G6PC3的一个新突变。
