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Pediatr Blood Cancer. 2007 Oct 15;49(5):609-14.

A molecular classification of congenital neutropenia syndromes.

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Division of Pediatric Hematology/Oncology, Department of Pediatrics, C.S. Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan, USA.


Current knowledge on the molecular pathogenesis of severe congenital neutropenia indicates that the clinical diagnosis includes a heterogeneous group of disorders following different patterns of inheritance. Similarly, multifaceted syndromes associated with neutropenia can be classified molecularly, which in turn allows for a better understanding of the basis of the neutropenia. Many of the neutropenia disorders can be treated with G-CSF (filgrastim) to increase the neutrophil count, thereby reducing infection morbidity and mortality. In some instances hematopoietic stem cell transplantation remains the only curative treatment currently available. This review describes and classifies, on a molecular basis, both primary congenital neutropenia and multifaceted syndromes associated with neutropenia.

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