Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
نویسندگان
چکیده
منابع مشابه
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.
Severe congenital neutropenia (SCN) is a heterogeneous bone marrow failure syndrome predisposing to myelodysplastic syndrome and acute myeloid leukaemia (MDS/AML). We studied 82 North American and Australian SCN patients enrolled in the Severe Chronic Neutropenia International Registry who were on long-term treatment with granulocyte colony-stimulating factor and for whom the neutrophil elastas...
متن کاملNeutrophil elastase in cyclic and severe congenital neutropenia.
Mutations in ELA2 encoding the neutrophil granule protease, neutrophil elastase (NE), are the major cause of the 2 main forms of hereditary neutropenia, cyclic neutropenia and severe congenital neutropenia (SCN). Genetic evaluation of other forms of neutropenia in humans and model organisms has helped to illuminate the role of NE. A canine form of cyclic neutropenia corresponds to human Hermans...
متن کاملPaternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.
Heterozygous mutations in neutrophil elastase have been detected in many sporadic cases of congenital neutropenia. However, a convincing pathogenetic mechanism has not been established, and it is unclear whether the effects of the mutant enzyme occur within the cell of production or are paracrine in nature. The healthy father of a patient was demonstrated to be mosaic for his daughter's Cys42Ar...
متن کاملRetraction. Neutrophil elastase mutations in severe congenital neutropenia patients of the original Kostmann family.
Severe congenital neutropenia (SCN), or Kostmann syndrome, was originally reported as an autosomal recessive disease of neutrophil production and recurrent bacterial infections. Heterozygous mutations in the neutrophil elastase (NE) gene have previously been identified in patients with sporadic or autosomal dominant SCN. Here we present cellular and molecular studies of all 4 surviving affected...
متن کاملSignificance of neutrophil elastase mutations versus G-CSF receptor mutations for leukemic progression of congenital neutropenia.
receiving bone marrow from unrelated donors followed by an intensified GVHD prophylaxis showed CMV PCR positivity even sooner after transplantation, but again PCR-based antiviral therapy was found to be safe with only 1 patient developing early fatal CMV disease as already reported previously.2 But this group seemed to be at an increased risk for late onset CMV disease most likely due to a dela...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2007
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.2007.06897.x