Molecular screening of the neutrophil elastase gene in congenital neutropenia.
نویسندگان
چکیده
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.
منابع مشابه
Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase.
"Neutropenia" refers to deficient numbers of neutrophils, the most abundant type of white blood cell. Two main forms of inherited neutropenia are cyclic neutropenia, in which neutrophil counts oscillate with a 21-day frequency, and severe congenital neutropenia, in which static neutropenia may evolve at times into leukemia. Mutations of ELA2, encoding the protease neutrophil elastase, can cause...
متن کاملارتباط موتاسیون ژن الاستاز II با علائم بالینی و یافته‌های آزمایشگاهی در نوتروپنی دوره‌ای و نوتروپنی مادرزادی شدید
Background: Mutations of ELA2, the gene encoding neutrophil elastase (NE) are known to be associated with cyclic neutropenia (CN) and severe congenital neutropenia (SCN). However, high variability of these mutations has been reported. This study was designed to describe the analysis of the ELA2 gene, clinical manifestations and demographic characteristics in patients with CN and SCN. Methods...
متن کاملNeutrophil elastase depends on serglycin proteoglycan for localization in granules.
Granule proteins play a major role in bacterial killing by neutrophils. Serglycin proteoglycan, the major intracellular proteoglycan of hematopoietic cells, has been proposed to play a role in sorting and packing of granule proteins. We examined the content of major neutrophil granule proteins in serglycin knockout mice and found neutrophil elastase absent from mature neutrophils as shown by ac...
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 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...
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 43 12 شماره
صفحات -
تاریخ انتشار 2006