specific granule deficiency

Genetics: autosomal recessive Pathology: 1) abnormal neutrophil chemotaxis 2) impaired respiratory burst & bactericidal activity 3) failure to upregulate chemotactic & adhesion receptors with stimulation 4) defect in transcription of granule proteins Clinical manifestations: 1) recurrent infections of the skin, ears & sinopulmonary tract 2) delayed wound healing 3) decreased inflammation 4) bleeding diathesis Laboratory: 1) complete blood count 2) peripheral smear -> lack of secondary granules in neutrophils 3) lack of neutrophil-specific granule contents (i.e lactoferrin) 4) absent defensins 5) platelet alpha granule abnormality

References

Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 356