期刊
FRONTIERS IN IMMUNOLOGY
卷 12, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fimmu.2021.653932
关键词
severe congenital neutropenia; cyclic neutropenia; neutrophil elastase; ELANE mutations; unfolded protein response; mistrafficking; mislocalization
类别
资金
- Foundation for Polish Science (FNP) TEAM NET Programme [POIR.04.04.00-00-1603/18]
This review summarizes studies exploring the mechanisms of neutrophil deficiency, the biological role of NE in neutrophils, and the effects of ELANE mutation and neutropenia pathogenesis. Various hypotheses and treatment options for neutropenia are also discussed.
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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