Both profound neutropenia and functional phagocyte disorders render patients susceptible to recurrent, unusual, and/or life-threatening infections. Many disorders also have nonhematologic manifestations and a substantial risk of leukemogenesis. Diagnosis relies on clinical suspicion and interrogation of the complete blood count with differential/bone marrow examination coupled with immunologic and genetic analyses. Treatment of the quantitative neutrophil disorders depends on granulocyte colony-stimulating factor, whereas management of functional phagocyte disease is reliant on antimicrobials and/or targeted therapies. Hematopoietic stem cell transplant remains the only curative option for most disorders but is not used on a routine basis.
Keywords: ELANE; Granulocyte colony-stimulating factor (G-CSF); Neutropenia; Oxidative burst; Phagocytes.
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