Neutrophil-specific granule deficiency

Patients have a lifetime of recurrent, pyogenic infections. Neutrophils from these individuals have abnormalities in nuclear morphology and lack primary, specific, and tertiary granule proteins including lactoferrin, collagenase, and defensins. They are defective in chemotaxis and killing of bacteria. Eosinophil-specific granule content, including eosinophil cationic protein, eosinophil-derived neurotoxin, and major basic protein (MBP), is deficient in specific granule deficiency (SGD) and have a defect in myelopoiesis. Due to impairment of the granulocytic and monocytic lineages, patients have profound defects in the innate-immune response, with severe and frequent bacterial infections.

Diagnostic laboratories

Clinical:

Genetic:

Therapeutic options

  • Treatment with recombinant human granulocyte colony-stimulating factor (GCSF) elevates the granulocyte counts, diminishes the number of new infections and improve survival and quality of life. Some patients developed leukemia or myelodysplastic syndrome. Bone marrow transplantation could be an option.
  • Inherited Neutrophil Disorders, Molecular Basis and New Therapies

Research programs, clinical trials