Document Detail

Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia.
MedLine Citation:
PMID:  11722436     Owner:  NLM     Status:  MEDLINE    
Mutations in the ELA2 gene encoding human neutrophil elastase have been reported recently to be involved in the aetiology of both, cyclic (CyN) and congenital neutropenia (CN). We analysed the correlation between the occurrence of ELA2 mutations and the neutropenic phenotype in a family with two children affected with CN. The two children harboured the same heterozygous mutation in the ELA2 gene that was inherited from their unaffected father. We conclude that ELA2 mutations are not the single cause of CN although they might be a necessary prerequisite for the expression of the neutropenic phenotype in a subgroup of CN patients.
M Germeshausen; H Schulze; M Ballmaier; C Zeidler; K Welte
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  British journal of haematology     Volume:  115     ISSN:  0007-1048     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  2001 Oct 
Date Detail:
Created Date:  2001-11-27     Completed Date:  2001-12-19     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  England    
Other Details:
Languages:  eng     Pagination:  222-4     Citation Subset:  IM    
Department of Paediatric Haematology and Oncology, Medizinische Hochschule Hannover, Germany.
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MeSH Terms
Cell Count
Cell Differentiation
Mutation, Missense*
Neutropenia / blood,  genetics*
Neutrophils / enzymology*
Pancreatic Elastase / genetics*
Reg. No./Substance:
EC Elastase
Comment In:
Br J Haematol. 2002 Sep;118(3):923; author reply 923-4   [PMID:  12181069 ]

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