Severe Congenital Neutropenia Due to G6pc3 Deficiency: Early and Delayed Phenotype of a Patient Publisher



Moradian N^{1, 2} ; Zoghi S^{2, 3, 4, 5} ; Rayzan E^{2, 6} ; Seyedpour S¹ ; Jimenez Heredia R^{3, 4, 5, 7} ; Boztug K^{3, 4, 5, 8} ; Rezaei N^{2, 9, 10}
Source: Allergy# Asthma and Clinical Immunology Published:2023

Abstract

Background: Severe Congenital Neutropenia type 4 (SCN4), is a rare autosomal recessive condition, due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and accompanying anomalies. Case presentation: We report a male patient with confirmed G6PC3 deficiency presented with recurrent bacterial infections and multi-systemic complications. Our case was the first with a novel homozygous frameshift mutation in G6PC3. The patient demonstrated large platelets on his peripheral blood smear which is a rare presentation of this disease. Conclusion: As SCN4 patients could be easily missed, it is recommended to consider G6PC3 mutation for any case of congenital, unexplained neutropenia. © 2023, The Author(s).