AUTHOR=Rydzynska Zuzanna , Pawlik Bartlomiej , Krzyzanowski Damian , Mlynarski Wojciech , Madzio Joanna 

TITLE=Neutrophil Elastase Defects in Congenital Neutropenia

JOURNAL=Frontiers in Immunology

VOLUME=Volume 12 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2021.653932

DOI=10.3389/fimmu.2021.653932

ISSN=1664-3224

ABSTRACT=<p>Severe congenital neutropenia (SCN) is a rare hematological condition with heterogenous genetic background. Neutrophil elastase (NE) encoded by <italic>ELANE</italic> gene is mutated in over half of the SCN cases. The role of NE defects in myelocytes maturation arrest in bone marrow is widely investigated; however, the mechanism underlying this phenomenon has still remained unclear. In this review, we sum up the studies exploring mechanisms of neutrophil deficiency, biological role of NE in neutrophil and the effects of <italic>ELANE</italic> mutation and neutropenia pathogenesis. We also explain the hypotheses presented so far and summarize options of neutropenia therapy.</p>