Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia

Abstract

We read with interest the recent perspective article by Klein.[1][1] Genetic analysis in individuals with severe congenital neutropenia (SCN) indicates that 60% of cases were attributable to heterozygous mutation in ELA2 gene encoding neutrophil elastase.[2][2] Homozygous mutation in HAX1 gene has