Inherited neutropenic syndromes

Numerous genetic disorders are associated with neutropenia, but they represent a minority of cases seen in clinical practice ( Table.2). Some of the more common disorders are discussed below.

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Table 2 Some inherited disorders causing neutropenia

Kostmann's syndrome

Kostmann's syndrome is an autosomal recessive disease characterized by severe neutropenia (often < 0.5 * 10 9/l) and frequent infection during the first month of life. In the absence of bone marrow transplantation, most children die during the first year of life. Treatment with supraphysiological doses of granulocyte colony-stimulating factor causes neutrophil differentiation and a reduction in the incidence of infection and mortality.

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