Neutrophil Elastase Defects in Congenital Neutropenia

被引：27
|
作者：
Rydzynska, Zuzanna [1 ]
Pawlik, Bartlomiej [1 ,2 ]
Krzyzanowski, Damian [1 ,3 ]
Mlynarski, Wojciech [1 ]
Madzio, Joanna [1 ]
机构：
[1] Med Univ Lodz, Dept Pediat Oncol & Hematol, Lodz, Poland
[2] Med Univ Warsaw, Postgrad Sch Mol Med, Warsaw, Poland
[3] Polish Acad Sci, Lab Epigenet, Inst Med Biol, Lodz, Poland
来源：
FRONTIERS IN IMMUNOLOGY | 2021年 / 12卷
关键词：
severe congenital neutropenia; cyclic neutropenia; neutrophil elastase; ELANE mutations; unfolded protein response; mistrafficking; mislocalization; MUTATIONS; PROTEIN;
D O I：
10.3389/fimmu.2021.653932
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
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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页数：12
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