De novo mutations of \(\textit{ ELANE}\) gene in three Vietnamese patients with severe congenital neutropenia

Severe congenital neutropenia (SCN) is a condition in which granulocytes mature abnormally owing to variety of genetic defects, resulting immunodeficiency. Among the several variations related SCN, heterozygous mutations ELANE gene encoding neutrophil elastase account for approximately 60% causes. Here, we present three patients from different Vietnamese families who were susceptible infectious diseases such as lung abscesses, sepsis, cellulitis, and septicemia. Moreover, their hematological immunological parameters below reference range. Whole exome sequencing (WES) analysis was performed all cases harboring previously described disease-causing mutations, including p.Arg103Pro, p.Trp156Arg, p.Arg81Pro (NM_001972.4). These confirmed by Sanger method patients, helping identify de novo cases. Our data increase more evidence function well raise awareness this rare disease context frequent infections Vietnam.