Analysis of a novel mutation in the C/EBPe gene and granulocytic differentiation in neutrophil-specific granule deficiency
Project/Area Number |
15K09642
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
|
Research Institution | Kanazawa University |
Principal Investigator |
Wada Taizo 金沢大学, 附属病院, 講師 (30313646)
|
Project Period (FY) |
2015-04-01 – 2018-03-31
|
Project Status |
Completed (Fiscal Year 2017)
|
Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
|
Keywords | 小児科学 / 先天性免疫不全症 / 好中球二次顆粒欠損症 |
Outline of Final Research Achievements |
Neutrophil-specific granule deficiency (SGD) is a primary immunodeficiency disease caused by mutations in a transcription factor, CCAAT/enhancer binding protein-ε (C/EBPε). We have identified a third case of genetically defined SGD. She had a novel homozygous 2-aa deletion in the leucine zipper domain of the C/EBPε gene. The mutant maintained normal cellular localization and DNA-binding activity, but was defective in protein-protein interaction with other transcription factors, resulting in a loss of transcriptional activation. Her neutrophils showed aberrant expression of monocyte markers such as CD14. These results support the importance of the leucine zipper domain of C/EBPε for its essential function, and indicate a novel molecular mechanism that leads to SGD in the patient.
|
Report
(4 results)
Research Products
(23 results)
-
[Journal Article] Flow cytometry-based diagnosis of primary immunodeficiency diseases2018
Author(s)
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T.
-
Journal Title
Allergology International
Volume: 67
Issue: 1
Pages: 43-54
DOI
NAID
ISSN
1323-8930, 1440-1592
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
-
-
[Journal Article] Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.2017
Author(s)
3.Ono S, Okano T, Hoshino A, Yanagimachi M, Hamamoto K, Nakazawa Y, Imamura T, Onuma M, Niizuma H, Sasahara Y, Tsujimoto H, Wada T, Kunisaki R, Takagi M, Imai K, Morio T, Kanegane H.
-
Journal Title
J Clin Immunol.
Volume: 37
Issue: 1
Pages: 85-91
DOI
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
-
[Journal Article] RAG1 Deficiency May Present Clinically as Selective IgA Deficiency.2015
Author(s)
Kato T, Crestani E, Kamae C, Honma K, Yokosuka T, Ikegawa T, Nishida N, Kanegane H, Wada T, Yachie A, Ohara O, Morio T, Notarangelo LD, Imai K, Nonoyama S.
-
Journal Title
J Clin Immunol.
Volume: 35(3)
Issue: 3
Pages: 280-8
DOI
Related Report
Peer Reviewed / Open Access
-
[Journal Article] A Female Patient with Incomplete Hemophagocytic Lymphohistiocytosis Caused by a Heterozygous XIAP Mutation Associated with Non-Random X-Chromosome Inactivation Skewed Towards the Wild-Type XIAP Allele2015
Author(s)
Yang X, Hoshino A, Taga T, Kunitsu T, Ikeda Y, Yasumi T, Yoshida K, Wada T, Miyake K, Kubota T, Okuno Y, Muramatsu H, Adachi Y, Miyano S, Ogawa S, Kojima S, Kanegane H
-
Journal Title
J Clin Immunol
Volume: 35(3)
Issue: 3
Pages: 244-8
DOI
Related Report
Peer Reviewed
-
-
-
-
[Journal Article] Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.2015
Author(s)
Okuno Y, Hoshino A, Muramatsu H, Kawashima N, Wang X, Yoshida K, Wada T, Gunji M, Toma T, Kato T, Shiraishi Y, Iwata A, Hori T, Kitoh T, Chiba K, Tanaka H, Sanada M, Takahashi Y, Nonoyama S, Ito M, Miyano S, Ogawa S, Kojima S, Kanegane H.
-
Journal Title
J Clin Immunol
Volume: 35
Issue: 7
Pages: 610-614
DOI
Related Report
Peer Reviewed
-
-
-
-
-
-
-
-