| Congenital neutropenia. | |
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MedLine Citation:
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PMID: 14556775 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital neutropenia is strictly defined as neutropenia present at birth. However, it is more generally used to describe neutropenia secondary to inherited genetic mutations. This review will discuss the presentation of such children and the various causes of congenital neutropenia. In particular, it will focus on severe congenital neutropenia (SCN) and the recent discovery of mutations in the gene encoding neutrophil elastase in the majority of cases of SCN. The potential mechanisms of pathogenesis and of transformation to leukaemia will be discussed. Shwachman-Diamond Syndrome and other less common causes of congenital neutropenia will also be reviewed. Finally, an approach to the child with potential congenital neutropenia will be presented. |
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Authors:
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Philip James Ancliff |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Blood reviews Volume: 17 ISSN: 0268-960X ISO Abbreviation: Blood Rev. Publication Date: 2003 Dec |
Date Detail:
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Created Date: 2003-10-14 Completed Date: 2004-07-09 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8708558 Medline TA: Blood Rev Country: Scotland |
Other Details:
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Languages: eng Pagination: 209-16 Citation Subset: IM |
Affiliation:
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Department of Haematology, Great Ormond Street Hospital, London WC1N 3JH, UK. anclip@gosh.nhs.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Antiporters
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genetics Humans Leukocyte Elastase / genetics Monosaccharide Transport Proteins / genetics Neutropenia / congenital*, etiology, therapy Proteins / genetics Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Antiporters; 0/Monosaccharide Transport Proteins; 0/Proteins; 0/SBDS protein, human; 0/SLC37A4 protein, human; 0/glucose 6-phosphate(transporter); EC 3.4.21.37/Leukocyte Elastase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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