Tehran University of Medical Sciences Iranian Journal of Allergy, Asthma and Immunology 1735-1502 10 3 2011 09 15 227 230 EN Zahra Alizadeh Immunology, Asthma & Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Mohammad Reza Fazlollahi Immunology, Asthma & Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Payman Eshghi Department of Pediatrics Department, Mofid Children Hospital, Shaheed Beheshti Medical University, Tehran, Iran Amir Ali Hamidieh Hematology-Oncology & SCT Research Centre, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran Zahra Pourpak Immunology, Asthma & Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran Mohsen Ghadami Immunology, Asthma & Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran 2015 10 01 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. https://ijaai.tums.ac.ir/index.php/ijaai/article/view/314 https://ijaai.tums.ac.ir/index.php/ijaai/article/download/314/314