Molecular basis of congenital neutropenia.
نویسنده
چکیده
منابع مشابه
New insights into the genetics of congenital neutropenia.
Several congenital disorders may cause neutropenia. The recent advances in the field of molecular biology have facilitated our knowledge concerning pathophysiological mechanisms leading to these disorders. The molecular basis of disorders with defective myelopoiesis (severe congenital neutropenia and cyclic neutropenia) and disorders due to defective RNA processing (Shwachman Diamond syndrome a...
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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 multifacet...
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Our understanding of the pathogenesis of congenital and acquired neutropenia is rapidly evolving. New ground-breaking observations have identified the genes responsible for many of the congenital neutropenia syndromes and are also providing new insights into normal neutrophil commitment and differentiation. Acquired neutropenia remains a poorly understood syndrome, although new insights into it...
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OVER THE PAST DECADE, ENORMOUS PROGRESS HAS BEEN MADE IN THE UNDERSTANDING OF SEVERE CONGENITAL NEUTROPENIA (SCN), BY IDENTIFICATION OF SEVERAL CAUSAL GENE MUTATIONS: in ELANE, GFI1, HAX1, WAS and G3PC3. SCN is a preleukemic condition, independent of the genetic subtype. Acquired CSF3R mutations are specific for SCN and are strongly associated with malignant progression. In this review, we desc...
متن کاملCongenital 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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عنوان ژورنال:
- Haematologica
دوره 94 10 شماره
صفحات -
تاریخ انتشار 2009