specific granule deficiency

Pathology

• abnormal neutrophil chemotaxis
• impaired respiratory burst & bactericidal activity
• failure to upregulate chemotactic & adhesion receptors with stimulation
• defect in transcription of granule proteins

Genetics

autosomal recessive

Clinical manifestations

• recurrent infections of the skin, ears & sinopulmonary tract
• delayed wound healing
• decreased inflammation
• bleeding diathesis

Laboratory

• complete blood count
• peripheral smear
  • lack of secondary granules in neutrophils
• lack of neutrophil-specific granule contents (i.e lactoferrin)
• absent defensins
• platelet alpha granule abnormality

More general terms

• phagocytic disorder