Definition
Neutrophil-specific granule deficiency (SGD) is an autosomal recessive congenital disorder in which the function and structure of neutrophils are altered, resulting in severe and recurrent bacterial infections, mainly by Staphylococcus aureus. SGD patients’ neutrophils lack primary and secondary granule proteins, have abnormal migration and aggregation atypical bilobed nuclei and inadequate bactericidal activity. CEBPE, also known as CCAAT/enhancer binding protein (C/EBP) epsilon, which is a member of the C/EBP family of transcription factors, has been implicated in SGD. Those patients have normal neutrophil count in blood count.
Introduction/Background
Specific granule deficiency (SGD) is a rare congenital disorder provoked by an abnormal formation of peroxidase negative neutrophil granules. SGD patients suffer from recurrent infections, often in the form of abscesses. Their number of neutrophils is...
This is a preview of subscription content, log in via an institution.
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.
Häger M, Cowland JB, Borregaard N. Neutrophil granules in health and disease (review). J Intern Med. 2010;268:25–34.
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.
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.
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.
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.
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.
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.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Section Editor information
Rights and permissions
Copyright information
© 2018 Springer Science+Business Media, LLC, part of Springer Nature
About this entry
Cite this entry
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
Download citation
DOI: https://doi.org/10.1007/978-1-4614-9209-2_146-1
Received:
Accepted:
Published:
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