Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Specific Granule Deficiency

Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_146-1



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.


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...


Specific Granule Deficiency (SGD) Growth Factor Independence (GFI1) SGD Neutrophils Bactericidal/permeability-increasing Protein (BPI) Lactoferrin Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
This is a preview of subscription content, log in to check access.


  1. 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.CrossRefGoogle Scholar
  2. Häger M, Cowland JB, Borregaard N. Neutrophil granules in health and disease (review). J Intern Med. 2010;268:25–34.PubMedGoogle Scholar
  3. 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.CrossRefGoogle Scholar
  4. 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.CrossRefGoogle Scholar
  5. 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.CrossRefGoogle Scholar
  6. 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.CrossRefGoogle Scholar
  7. 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.CrossRefGoogle Scholar
  8. 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.CrossRefGoogle Scholar

Authors and Affiliations

  1. 1.Federal University of ParanáCuritibaBrazil
  2. 2.Department of PediatricsFederal University of ParanáCuritibaBrazil

Section editors and affiliations

  • Antonio Condino-Neto
    • 1
  1. 1.Institute of Biomedical SciencesUniversity of São PauloSão PauloBrasil