| 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)
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| 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.
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