Mutations in the neutrophil elastase gene in cyclic and congenital neutropenia.

Abstract excerpt

Severe neutropenia disorders are characterized by extremely low levels of peripheral blood neutrophils, a maturation block of bone marrow progenitor cells and recurring severe bacterial and fungal infections. Recent reports indicated that severe neutropenia is a consequence of an impaired survival and abnormal cell cycle progression of myeloid progenitor cells in both cyclic and severe congenital neutropenia....

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