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Article

Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency.

Journal of leukocyte biology - 1 Feb 2004

Shiohara Masaaki, Gombart Adrian F, Sekiguchi Yukio, Hidaka Eiko, Ito Susumu, Yamazaki Takashi, Koeffler H Phillip, Komiyama Atsushi

Abstract excerpt

Neutrophil-specific granule deficiency (SGD) is a rare, congenital disease characterized by atypical neutrophil structure and function, resulting in recurrent bacterial infections from early infancy. Homozygous recessive mutations in the CCAAT/enhancer-binding protein epsilon (C/EBPepsilon) gene were described in two of five SGD patients, indicating loss of C/EBPepsilon function as the primary genetic defect in...

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Identifiers

PMID: 14576362
DOI: 10.1189/jlb.0203063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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