{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T04:02:56Z","timestamp":1791432176938,"version":"4.3.3"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2015,7,1]],"date-time":"2015-07-01T00:00:00Z","timestamp":1435708800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Neutrophil-specific granule deficiency (SGD) is a rare autosomal recessive primary immunodeficiency characterized by neutrophil dysfunction, bilobed neutrophil nuclei and lack of neutrophil-specific granules. Defects in a myeloid-specific transcription factor, CCAAT\/enhancer binding protein-\u03b5 (C\/EBP\u03b5), have been identified in two cases in which homozygous frameshift mutations led to loss of the leucine zipper domain. In this study, we report a 55-y-old woman affected with SGD caused by a novel homozygous 2-aa deletion (\u0394RS) in the leucine zipper domain of the C\/EBP\u03b5 gene. The patient showed characteristic neutrophil abnormalities and recurrent skin infections; however, there was no history of deep organ infections. Biochemical analysis revealed that, in contrast to the two frameshift mutations, the \u0394RS mutant maintained normal cellular localization, DNA-binding activity, and dimerization, and all three mutants exhibited marked reduction in transcriptional activity. The \u0394RS mutant was defective in its association with Gata1 and PU.1, as well as aberrant cooperative transcriptional activation of eosinophil major basic protein. Thus, the \u0394RS likely impairs protein-protein interaction with other transcription factors, resulting in a loss of transcriptional activation. These results further support the importance of the leucine zipper domain of C\/EBP\u03b5 for its essential function, and indicate that multiple molecular mechanisms lead to SGD.<\/jats:p>","DOI":"10.4049\/jimmunol.1402222","type":"journal-article","created":{"date-parts":[[2015,5,28]],"date-time":"2015-05-28T12:50:29Z","timestamp":1432817429000},"page":"80-86","source":"Crossref","is-referenced-by-count":30,"title":["A Novel In-Frame Deletion in the Leucine Zipper Domain of C\/EBP\u03b5 Leads to Neutrophil-Specific Granule Deficiency"],"prefix":"10.1093","volume":"195","author":[{"given":"Taizo","family":"Wada","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University , Kanazawa 920-8641 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadayuki","family":"Akagi","sequence":"additional","affiliation":[{"name":"Department of Stem Cell Biology, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University , Kanazawa 920-8640 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Muraoka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University , Kanazawa 920-8641 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Toma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University , Kanazawa 920-8641 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenzo","family":"Kaji","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Komatsu Municipal Hospital , Komatsu 923-0961 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazunaga","family":"Agematsu","sequence":"additional","affiliation":[{"name":"Department of Infection and Host Defense, Shinshu University Graduate School of Medicine , Matsumoto 390-8621 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H Phillip","family":"Koeffler","sequence":"additional","affiliation":[{"name":"Division of Hematology and Oncology, Cedars-Sinai Medical Center, University of California Los Angeles School of Medicine , Los Angeles, CA 90048"},{"name":"Cancer Science Institute of Singapore, National University of Singapore , Singapore 117599 ,","place":["Singapore"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Yokota","sequence":"additional","affiliation":[{"name":"Department of Stem Cell Biology, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University , Kanazawa 920-8640 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Yachie","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University , Kanazawa 920-8641 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2015,7,1]]},"reference":[{"key":"2025030703413079600_r1","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1097\/00062752-200201000-00007","article-title":"Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C\/EBP(\u03b5)","volume":"9","author":"Gombart","year":"2002","journal-title":"Curr. 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