BackgroundSevere Congenital Neutropenia type 4 (SCN4), is a rare autosomal recessive condition, due to mutations in theG6PC3gene. The phenotype comprises neutropenia of variable severity and accompanying anomalies.Case presentationWe 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 inG6PC3. The patient demonstrated large platelets on his peripheral blood smear which is a rare presentation of this disease.ConclusionAs SCN4 patients could be easily missed, it is recommended to considerG6PC3mutation for any case of congenital, unexplained neutropenia.