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Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon).

Gombart AF, Koeffler HP.

Curr Opin Hematol. 2002 Jan;9(1):36-42. Review.


Regulation of neutrophil and eosinophil secondary granule gene expression by transcription factors C/EBP epsilon and PU.1.

Gombart AF, Kwok SH, Anderson KL, Yamaguchi Y, Torbett BE, Koeffler HP.

Blood. 2003 Apr 15;101(8):3265-73. Epub 2002 Dec 19.


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

Shiohara M, Gombart AF, Sekiguchi Y, Hidaka E, Ito S, Yamazaki T, Koeffler HP, Komiyama A.

J Leukoc Biol. 2004 Feb;75(2):190-7. Epub 2003 Oct 23.


Aberrant expression of neutrophil and macrophage-related genes in a murine model for human neutrophil-specific granule deficiency.

Gombart AF, Krug U, O'Kelly J, An E, Vegesna V, Koeffler HP.

J Leukoc Biol. 2005 Nov;78(5):1153-65. Epub 2005 Oct 4.


C/EBP epsilon mediates myeloid differentiation and is regulated by the CCAAT displacement protein (CDP/cut).

Khanna-Gupta A, Zibello T, Sun H, Lekstrom-Himes J, Berliner N.

Proc Natl Acad Sci U S A. 2001 Jul 3;98(14):8000-5.


C/EBPepsilon directs granulocytic-vs-monocytic lineage determination and confers chemotactic function via Hlx.

Halene S, Gaines P, Sun H, Zibello T, Lin S, Khanna-Gupta A, Williams SC, Perkins A, Krause D, Berliner N.

Exp Hematol. 2010 Feb;38(2):90-103. doi: 10.1016/j.exphem.2009.11.004. Epub 2009 Dec 5.


Haptoglobin is synthesized during granulocyte differentiation, stored in specific granules, and released by neutrophils in response to activation.

Theilgaard-Mönch K, Jacobsen LC, Nielsen MJ, Rasmussen T, Udby L, Gharib M, Arkwright PD, Gombart AF, Calafat J, Moestrup SK, Porse BT, Borregaard N.

Blood. 2006 Jul 1;108(1):353-61. Epub 2006 Mar 16.


Macrophage functional maturation and cytokine production are impaired in C/EBP epsilon-deficient mice.

Tavor S, Vuong PT, Park DJ, Gombart AF, Cohen AH, Koeffler HP.

Blood. 2002 Mar 1;99(5):1794-801.


Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene.

Khanna-Gupta A, Sun H, Zibello T, Lee HM, Dahl R, Boxer LA, Berliner N.

Blood. 2007 May 15;109(10):4181-90. Epub 2007 Jan 23.


Inherited Neutrophil Disorders: Molecular Basis and New Therapies.

Dinauer MC, Lekstrom-Himes JA, Dale DC.

Hematology Am Soc Hematol Educ Program. 2000:303-318.


A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPε Leads to Neutrophil-Specific Granule Deficiency.

Wada T, Akagi T, Muraoka M, Toma T, Kaji K, Agematsu K, Koeffler HP, Yokota T, Yachie A.

J Immunol. 2015 Jul 1;195(1):80-6. doi: 10.4049/jimmunol.1402222. Epub 2015 May 27.


Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency.

Lomax KJ, Gallin JI, Rotrosen D, Raphael GD, Kaliner MA, Benz EJ Jr, Boxer LA, Malech HL.

J Clin Invest. 1989 Feb;83(2):514-9.


Identification of murine and human XCP1 genes as C/EBP-epsilon-dependent members of FIZZ/Resistin gene family.

Chumakov AM, Kubota T, Walter S, Koeffler HP.

Oncogene. 2004 Apr 22;23(19):3414-25.


Highly glycosylated alpha1-acid glycoprotein is synthesized in myelocytes, stored in secondary granules, and released by activated neutrophils.

Theilgaard-Mönch K, Jacobsen LC, Rasmussen T, Niemann CU, Udby L, Borup R, Gharib M, Arkwright PD, Gombart AF, Calafat J, Porse BT, Borregaard N.

J Leukoc Biol. 2005 Aug;78(2):462-70. Epub 2005 Jun 7.


Human C/EBP-epsilon activator and repressor isoforms differentially reprogram myeloid lineage commitment and differentiation.

Bedi R, Du J, Sharma AK, Gomes I, Ackerman SJ.

Blood. 2009 Jan 8;113(2):317-27. doi: 10.1182/blood-2008-02-139741. Epub 2008 Oct 2.

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