Beschreibung:
<jats:title>Abstract</jats:title><jats:sec>
<jats:title>Background</jats:title>
<jats:p>Severe Congenital Neutropenia type 4 (SCN4), is a rare autosomal recessive condition, due to mutations in the <jats:italic>G6PC3</jats:italic> gene. The phenotype comprises neutropenia of variable severity and accompanying anomalies.</jats:p>
</jats:sec><jats:sec>
<jats:title>Case presentation</jats:title>
<jats:p>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 <jats:italic>G6PC3</jats:italic>. The patient demonstrated large platelets on his peripheral blood smear which is a rare presentation of this disease.</jats:p>
</jats:sec><jats:sec>
<jats:title>Conclusion</jats:title>
<jats:p>As SCN4 patients could be easily missed, it is recommended to consider <jats:italic>G6PC3</jats:italic> mutation for any case of congenital, unexplained neutropenia.</jats:p>
</jats:sec>