Neutrophil Elastase Defects in Congenital Neutropenia
نویسندگان
چکیده
منابع مشابه
Molecular screening of the neutrophil elastase gene in congenital neutropenia.
Congenital neutropenia is a rare hematopoietic disease, which occurs sporadically or as an auto-somal dominant inherited disorder. Pathogenesis of congenital neutropenia can now be attributed to mutations of the ELA2 gene encoding neutrophil elastase. A child with severe congenital neutropenia with a heterozygous mutation G1887A in exon 2 of ELA2 gene is reported.
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 کاملMutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
Congenital neutropenia and cyclic neutropenia are disorders of neutrophil production predisposing patients to recurrent bacterial infections. Recently the locus for autosomal dominant cyclic neutropenia was mapped to chromosome 19p13.3, and this disease is now attributable to mutations of the gene encoding neutrophil elastase (the ELA2 gene). The authors hypothesized that congenital neutropenia...
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 کاملNeutrophil 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...
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ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2021
ISSN: 1664-3224
DOI: 10.3389/fimmu.2021.653932