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Congenital neutropenia

1 Jan 2009

Abstract excerpt

Congenital neutropenia comprises a variety of genetically heterogeneous phenotypic traits. Molecular elucidation of the underlying genetic defects has yielded important insights into the physiology of neutrophil differentiation and function. Non-syndromic variants of congenital neutropenia are caused by mutations in ELA2, HAX1, GFI1, or WAS. Syndromic variants of congenital neutropenia may be due to mutations in...

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PMID: 20008220
DOI: 10.1182/asheducation-2009.1.344

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