Publication de 6 numéros par an
ISSN Imprimer: 1040-8401
ISSN En ligne: 2162-6472
IF:
1.3
5-Year IF:
2.6
Eigenfactor:
0.00079
JCI:
0.24
SJR:
0.429
SNIP:
0.287
CiteScore™::
2.7
H-Index:
81
Indexed in
Role of the Leucine Zipper Domain of CCAAT/ Enhancer Binding Protein-Epsilon (C/EBPε) in Neutrophil-Specific Granule Deficiency
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RÉSUMÉ
Neutrophil-specific granule deficiency (SGD) is a rare autosomal recessive primary immunodeficiency characterized by bilobed neutrophil nuclei and lack of neutrophil-specific granule proteins such as lactoferrin. A deficiency of a myeloid-specific transcription factor, CCAAT/enhancer binding protein-epsilon (C/EBPε), has been identified as a cause of SGD. C/EBPε binds to DNA though its basic leucine zipper (bZIP) domain, and regulates terminal differentiation of neutrophils and expression of specific granule genes. Homozygous frameshift mutations resulting in loss of the bZIP domain have been reported in two patients with SGD. A recent observation showed that a homozygous 2-aa deletion in the bZIP domain with normal DNA-binding and dimerization abilities causes SGD by impairing protein−protein interactions with other transcription factors, indicating that multiple molecular mechanisms can lead to SGD. Studies of patient-derived mutations and analysis of C/EBPε knockout mice have shown the importance of the bZIP domain for the essential functions of C/EBPε.
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Li Kening, Du Yuxin, Wei Dong-Qing, Zhang Fang, CEBPE expression is an independent prognostic factor for acute myeloid leukemia, Journal of Translational Medicine, 17, 1, 2019. Crossref
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Muraoka Masahiro, Akagi Tadayuki, Ueda Atsushi, Wada Taizo, Koeffler H. Phillip, Yokota Takashi, Yachie Akihiro, C/EBPε ΔRS derived from a neutrophil-specific granule deficiency patient interacts with HDAC1 and its dysfunction is restored by trichostatin A, Biochemical and Biophysical Research Communications, 516, 1, 2019. Crossref
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Liu Jin, Weiling Gu, Xueqin Li, Liang Xie, Linhong Wang, Zhongwen Chen, The CEBPE rs2239633 genetic polymorphism on susceptibility to childhood acute lymphoblastic leukemia: an updated meta-analysis, Environmental Health and Preventive Medicine, 26, 1, 2021. Crossref
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Banday Aaqib Zaffar, Kaur Anit, Akagi Tadayuki, Bhattarai Dharmagat, Muraoka Masahiro, Dev Diksha, Das Jhumki, Sachdeva Man Updesh Singh, Karmakar Indrani, Arora Kanika, Kaur Gurjit, Pandiarajan Vignesh, Jindal Ankur Kumar, Wada Taizo, Koeffler H. Phillip, Suri Deepti, Ahluwalia Jasmina, Kanegane Hirokazu, Bhatia Prateek, Rawat Amit, Singh Surjit, A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia, Journal of Clinical Immunology, 2022. Crossref
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Cheng Chi-Keung, Chan Hoi-Yun, Yung Yuk-Lin, Wan Thomas S. K., Leung Alex W. K., Li Chi-Kong, Tian Ke, Chan Natalie P. H., Cheung Joyce S., Ng Margaret H. L., A novel NUP98-JADE2 fusion in a patient with acute myeloid leukemia resembling acute promyelocytic leukemia, Blood Advances, 6, 2, 2022. Crossref