Neutrophil Elastase Defects in Congenital Neutropenia

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,...

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Autores principales: Rydzynska, Zuzanna, Pawlik, Bartlomiej, Krzyzanowski, Damian, Mlynarski, Wojciech, Madzio, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100030/
https://www.ncbi.nlm.nih.gov/pubmed/33968054
http://dx.doi.org/10.3389/fimmu.2021.653932
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author Rydzynska, Zuzanna
Pawlik, Bartlomiej
Krzyzanowski, Damian
Mlynarski, Wojciech
Madzio, Joanna
author_facet Rydzynska, Zuzanna
Pawlik, Bartlomiej
Krzyzanowski, Damian
Mlynarski, Wojciech
Madzio, Joanna
author_sort Rydzynska, Zuzanna
collection PubMed
description 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.
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spelling pubmed-81000302021-05-07 Neutrophil Elastase Defects in Congenital Neutropenia Rydzynska, Zuzanna Pawlik, Bartlomiej Krzyzanowski, Damian Mlynarski, Wojciech Madzio, Joanna Front Immunol Immunology 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. Frontiers Media S.A. 2021-04-22 /pmc/articles/PMC8100030/ /pubmed/33968054 http://dx.doi.org/10.3389/fimmu.2021.653932 Text en Copyright © 2021 Rydzynska, Pawlik, Krzyzanowski, Mlynarski and Madzio https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Rydzynska, Zuzanna
Pawlik, Bartlomiej
Krzyzanowski, Damian
Mlynarski, Wojciech
Madzio, Joanna
Neutrophil Elastase Defects in Congenital Neutropenia
title Neutrophil Elastase Defects in Congenital Neutropenia
title_full Neutrophil Elastase Defects in Congenital Neutropenia
title_fullStr Neutrophil Elastase Defects in Congenital Neutropenia
title_full_unstemmed Neutrophil Elastase Defects in Congenital Neutropenia
title_short Neutrophil Elastase Defects in Congenital Neutropenia
title_sort neutrophil elastase defects in congenital neutropenia
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100030/
https://www.ncbi.nlm.nih.gov/pubmed/33968054
http://dx.doi.org/10.3389/fimmu.2021.653932
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