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Specific Granule Deficiency

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References

  • Glenthøj A, Dahl S, Larsen MT, Cowland JB, Borregaard N. Human a-defensin expression is not dependent on CCAAT/enhancer binding protein-e in a murine model. PLoS One. 2014;9(3):e92471.

    Article  Google Scholar 

  • Häger M, Cowland JB, Borregaard N. Neutrophil granules in health and disease (review). J Intern Med. 2010;268:25–34.

    PubMed  Google Scholar 

  • Lomax KJ, Gallin JI, Rotrosen D, Raphael GD, Kaliner MA, Benz EJ Jr, Boxer LA, Malech HL. Selective defect in myeloid cell lactoferrin gene expression in neutrophil specific granule deficiency. J Clin Invest. 1989;83(2):514.

    Article  CAS  Google Scholar 

  • Priam P, Krasteva V, Rousseau P, et al. SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPε dependent mechanism. Nat Genet. 2017;49:753–64.

    Article  CAS  Google Scholar 

  • Shigemura T, Yamazaki T, Shiohara M, et al. Clinical course in a patient with neutrophil-specific granule deficiency and rapid detection of neutrophil granules as a screening test. J Clin Immunol. 2014;34:780–3.

    Article  Google Scholar 

  • Wada T, Akagi T, Muraoka M, et al. A novel in-frame deletion in the leucine zipper domain of C/EBPε leads to neutrophil-specific granule deficiency. J Immunol. 2015;195:80–6.

    Article  CAS  Google Scholar 

  • Witzel M, Petersheim D, Fan Y, et al. Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. Nat Genet. 2017;49:742–52.

    Article  CAS  Google Scholar 

  • Wynn RF, Sood M, Theilgaard-Mönch K, Jones CJ, Gombart AF, Gharib M, et al. Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation. Gut. 2006;55:292–6.

    Article  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Federal University of Paraná, Curitiba, Brazil

    Herberto Jose Chong-Neto & Nelson Augusto Rosario

  2. Department of Pediatrics, Federal University of Paraná, Curitiba, Brazil

    Cristine Secco Rosario

Authors
  1. Herberto Jose Chong-Neto
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  2. Cristine Secco Rosario
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  3. Nelson Augusto Rosario
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Corresponding author

Correspondence to Herberto Jose Chong-Neto .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, Victoria, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Noel R. Rose

Section Editor information

  1. Institute of Biomedical Sciences, University of São Paulo, São Paulo, São Paulo, Brasil

    Antonio Condino-Neto

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Chong-Neto, H.J., Rosario, C.S., Rosario, N.A. (2018). Specific Granule Deficiency. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_146-1

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_146-1

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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