Severe Congenital Neutropenia

Welte, Karl; Zeidler, Cornelia; Dale, David C.

doi:10.1053/j.seminhematol.2006.04.004

Cited by 183 publications

(181 citation statements)

References 33 publications

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“…Mutations in the gene for neutrophil elastase ELA2 were reported to be involved in the etiology of both congenital and cyclic neutropenia (20,(26)(27)(28). The mutations in SCN which were found in the present study mostly showed amino acid exchange at protein level.…”

Section: Discussionsupporting

confidence: 52%

Novel Mutation Detection of an Inflammatory Molecule Elastase ii Gene Encoding Neutrophil Elastase in Kostmann Syndrome

Ahangari¹,

Chavoshzadeh²,

Lari³

et al. 2007

Eur J Inflamm

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Severe congenital neutropenia (SCN), often referred to as Kostmann syndrome, is a rare immune deficiency syndrome diagnosed at or soon after birth, characterized by maturation arrest of myeloid cells at the promyelocyte stage of hematopoiesis. In severe congenital neutropenia due to disorder of neutrophil production, patients are predisposed to recurrent bacterial infections. Recently, there have been reports of detected mutations in neutrophil elastase II (ELA2) gene in genomic DNA of severe congenital neutropenia. In this study we attempted to determine whether there is any mutation in elastase II gene encoding. Peripheral blood was collected from five patients with severe congenital neutropenia and 20 healthy individuals. Total RNA was isolated using RNA standard techniques from fresh separated cells by Polymorphoprep. RNA was analyzed by employing PCR amplification of reverse transcribed using a total of ten specific primers. We amplified five exons of ELA2 gene separately and sequenced each exon. Mutational analysis was performed by directed capillary sequencing method. We found mutations in all severe congenital neutropenia patients and no mutation in 20 healthy individuals. The most mutations were in exon 4 and no mutation was found in exons 3 and 5.

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Section: Discussionsupporting

confidence: 52%

Novel Mutation Detection of an Inflammatory Molecule Elastase ii Gene Encoding Neutrophil Elastase in Kostmann Syndrome

Ahangari¹,

Chavoshzadeh²,

Lari³

et al. 2007

Eur J Inflamm

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show abstract

“…2 In many cases neutropenia represents the sole disease, but sometimes it is associated to a multisystem involvement (neurological, endocrine, immune systems and other somatic districts). 3 Mutations in different genes with various inheritance can cause SCN.…”

Section: Severe Congenital Neutropeniamentioning

confidence: 99%

Old and new faces of neutropenia in children

Dufour¹,

Miano

Fioredda³

2016

Haematologica

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“…As a consequence, life expectancy is prolonged and our first patients have reached adulthood with the desire for parenthood being an emerging issue. [1][2][3] Patients and physicians often ask about the benefits and safety of G-CSF treatment during pregnancy and this led us to initiate this survey. So far, only limited data are available on the risk of developing severe bacterial infections during pregnancy for women suffering from severe chronic neutropenia (including congenital, cyclic and idiopathic neutropenia) with or without G-CSF treatment.…”

Section: Introductionmentioning

confidence: 99%