Specific Granule Deficiency
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...