A molecular classification of congenital neutropenia syndromes

UMMS Affiliation

Department of Pediatrics



Document Type


Medical Subject Headings

Classification; Humans; Inheritance Patterns; Neutropenia; Syndrome


Hematology | Oncology | Pediatrics


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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Citation: Pediatr Blood Cancer. 2007 Oct 15;49(5):609-14. doi: 10.1002/pbc.21282

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Link to article in PubMed

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