Two cases of syndromic neutropenia with a report of novel mutation in G6PC3.

@article{Alizadeh2011TwoCO,
  title={Two cases of syndromic neutropenia with a report of novel mutation in G6PC3.},
  author={Zahra Alizadeh and Mohammad Reza Fazlollahi and Payman Eshghi and Amir Ali Hamidieh and Mohsen Ghadami and Z Pourpak},
  journal={Iranian journal of allergy, asthma, and immunology},
  year={2011},
  volume={10 3},
  pages={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… CONTINUE READING
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