Pediatr Blood Cancer 2007;49:609–614 REVIEW A Molecular Classification of Congenital Neutropenia Syndromes
نویسندگان
چکیده
Severe congenital neutropenia includes a variety of hematological disorders characterized by severe neutropenia with absolute neutrophil counts (ANCs) below 500/ml and associated with severe systemic bacterial infections from early infancy. The genetic basis of many of the inherited forms of congenital neutropenia have been documented. Genetic alterations have also been identified in multifaceted syndromes accompanied by neutropenia, which have allowed a further sub-classification of the multifaceted syndromes with neutropenia as detailed below.
منابع مشابه
Congenital neutropenia.
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 d...
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