2. Academic Validation
  3. Neutrophil Elastase Defects in Congenital Neutropenia

Neutrophil Elastase Defects in Congenital Neutropenia

  • Front Immunol. 2021 Apr 22:12:653932. doi: 10.3389/fimmu.2021.653932.
Zuzanna Rydzynska 1,  Bartlomiej Pawlik 1 2,  Damian Krzyzanowski 1 3,  Wojciech Mlynarski 1,  Joanna Madzio 1
Affiliations

Affiliations

  • 1 Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
  • 2 Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
  • 3 Laboratory of Epigenetics, Institute of Medical Biology, Polish Academy of Sciences, Lodz, Poland.
PMID: 33968054 DOI: 10.3389/fimmu.2021.653932
Abstract

Severe congenital neutropenia (SCN) is a rare hematological condition with heterogenous genetic background. Neutrophil Elastase (NE) encoded by ELANE 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 ELANE mutation and neutropenia pathogenesis. We also explain the hypotheses presented so far and summarize options of neutropenia therapy.

Keywords

ELANE mutations; cyclic neutropenia; mislocalization; mistrafficking; neutrophil elastase; severe congenital neutropenia; unfolded protein response.

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