Neutrophil-specific granule deficiency

Neutrophil-Specific Granule Deficiency. In this rare disorder, secondary or specific granules in neutrophils are absent. The defect may arise from a mutation that leads to the loss of function of the transcription factor CCAAT/enhancer binding protein e (C/EBPe), which is needed for neutrophil response to inflammation (91). Specific granule deficiency affecfs fhe migration of neutrophils. 

Specific-granule deficiency is a very rare neutrophil defect that has only been described in five patients worldwide. Patients present with recurrent... 

Patients with thermal injury are also deficient in specific granules. In this case, however, it appears that this deficit is due to activation of the cells such that they discharge their specific granules. Neutrophils from patients with bums have an increased expression of plasma-membrane markers (as would be predicted if specific-granule membranes have fused with the plasma membrane), and serum levels of lysozyme and lactoferrin are elevated. These patients have impaired chemotaxis and defective oxygen metabolism. 

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