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.
引用
收藏
页数：12
相关论文
共 50 条
  • [21] Neutrophil elastase and cancer
    Sato, Takashi
    Takahashi, Satoshi
    Mizumoto, Takao
    Harao, Michiko
    Akizuki, Miwa
    Takasugi, Miyuki
    Fukutomi, Takashi
    Yamashita, Jun-ichi
    SURGICAL ONCOLOGY-OXFORD, 2006, 15 (04): : 217 - 222
  • [22] Neutrophil elastase in bronchiectasis
    Andrea Gramegna
    Francesco Amati
    Leonardo Terranova
    Giovanni Sotgiu
    Paolo Tarsia
    Daniela Miglietta
    Maria Adelaide Calderazzo
    Stefano Aliberti
    Francesco Blasi
    Respiratory Research, 18
  • [23] A Truncated Granulocyte Colony-stimulating Factor Receptor (G-CSFR) Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: IMPLICATION FOR UNDERSTANDING CSF3R GENE MUTATIONS IN SEVERE CONGENITAL NEUTROPENIA
    Qiu, Yaling
    Zhang, Yangyang
    Hu, Nan
    Dong, Fan
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2017, 292 (08) : 3496 - 3505
  • [24] Neutrophil elastase in bronchiectasis
    Gramegna, Andrea
    Amati, Francesco
    Terranova, Leonardo
    Sotgiu, Giovanni
    Tarsia, Paolo
    Miglietta, Daniela
    Calderazzo, Maria Adelaide
    Aliberti, Stefano
    Blasi, Francesco
    RESPIRATORY RESEARCH, 2017, 18
  • [25] Genetic Insights into Congenital Neutropenia
    Klein, Christoph
    Welte, Karl
    CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY, 2010, 38 (01) : 68 - 74
  • [26] Molecular basis of congenital neutropenia
    Klein, Christoph
    HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2009, 94 (10): : 1333 - 1336
  • [27] Neutrophil Elastase Inhibitors and Chronic Kidney Disease
    Bronze-da-Rocha, Elsa
    Santos-Silva, Alice
    INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES, 2018, 14 (10): : 1343 - 1360
  • [28] G-CSF resistance of ELANE-mutant neutropenia depends on SERF1-containing truncated-neutrophil elastase aggregates
    Nayak, Ramesh C.
    Emberesh, Sana
    Trump, Lisa R.
    Wellendorf, Ashley M.
    Singh, Abhishek K.
    Korkmaz, Brice
    Horwitz, Marshall S.
    Myers, Kasiani C.
    Kalfa, Theodosia A.
    Lutzko, Carolyn M.
    Cancelas, Jose A.
    JOURNAL OF CLINICAL INVESTIGATION, 2025, 135 (02)
  • [29] The Spectrum of ELANE Mutations and their Implications in Severe Congenital and Cyclic Neutropenia
    Germeshausen, Manuela
    Deerberg, Sabine
    Peter, Yvonne
    Reimer, Christina
    Kratz, Christian P.
    Ballmaier, Matthias
    HUMAN MUTATION, 2013, 34 (06) : 905 - 914
  • [30] Unrelated cord blood transplantation in children with severe congenital neutropenia
    Yesilipek, M. Akif
    Tezcan, Gulsun
    Germeshausen, Manuela
    Kupesiz, Alphan
    Uygun, Vedat
    Hazar, Volkan
    PEDIATRIC TRANSPLANTATION, 2009, 13 (06) : 777 - 781
12345