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Congenital neutropenia
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Congenital neutropenia is a group of rare diseases. They correspond to quantitative neutrophil deficiencies of genetic origin and constitute a very heterogeneous group on the phenotypic and genotypic level. There are two forms: primary constitutional neutropenia and neutropenia associated with a genetic disease. The diagnosis is based on clinical and biologic arguments: family and personal history, recurrent bacterial or fungal infections, persistence of neutropenia and specific appearance on the myelogram. Recent advances in genetics and molecular biology have made it possible to describe about twenty genes as responsible for these pathologies. The severity of infections during congenital neutropenia is related to the depth of neutropenia and its duration on the one hand, and to the genetic origin on the other hand, which requires an adequate management based on antibiotic therapy and the administration of G-CSF. Hematopoietic stem cell transplantation remains the only curative therapy.
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