Document Detail


ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.
MedLine Citation:
PMID:  23351986     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The 2 main forms of hereditary neutropenia are cyclic (CN) and severe congenital (SCN) neutropenia. CN is an autosomal dominant disorder in which neutrophil counts fluctuate with 21-day periodicity. SCN consists of static neutropenia, with promyelocytic maturation arrest in the bone marrow. Unlike CN, SCN displays frequent acquisition of somatic mutations in the gene CSF3R. CN is caused by heterozygous mutations in the gene ELANE, encoding neutrophil elastase. SCN is genetically heterogeneous but is most frequently associated with ELANE mutations. We discuss how the mutations provide clues into the pathogenesis of neutropenia and describe current hypotheses for its molecular mechanisms.
Authors:
Marshall S Horwitz; Seth J Corey; H Leighton Grimes; Timothy Tidwell
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Publication Detail:
Type:  Journal Article; Review     Date:  2012-11-07
Journal Detail:
Title:  Hematology/oncology clinics of North America     Volume:  27     ISSN:  1558-1977     ISO Abbreviation:  Hematol. Oncol. Clin. North Am.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-28     Completed Date:  2013-07-01     Revised Date:  2014-02-04    
Medline Journal Info:
Nlm Unique ID:  8709473     Medline TA:  Hematol Oncol Clin North Am     Country:  United States    
Other Details:
Languages:  eng     Pagination:  19-41, vii     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Elsevier Inc. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Animals
Disease Models, Animal
Humans
Inheritance Patterns
Leukocyte Elastase / genetics*,  metabolism
Mice
Mutation*
Neutropenia / congenital*,  etiology,  genetics*
Neutrophils
Grant Support
ID/Acronym/Agency:
R01 DK058161/DK/NIDDK NIH HHS
Chemical
Reg. No./Substance:
EC 3.4.21.37/Leukocyte Elastase
Comments/Corrections

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