| Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? | |
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MedLine Citation:
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PMID: 17989524 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE OF REVIEW: Severe congenital neutropenia is a primary immunodeficiency in which lack of neutrophils causes inadequate innate immune host response to bacterial infections. Severe congenital neutropenia occurs with sporadic, autosomal dominant, autosomal recessive and X-linked recessive inheritance, as well as in a variety of multisystem syndromes. A principal stimulus for this review is the identification of novel genetic defects and pathophysiological insights into the role of neutrophil apoptosis. RECENT FINDINGS: The recent findings include identification of mutations in HAX1 in autosomal recessive severe congenital neutropenia (Kostmann disease), a large epidemiological study estimating the risk of progression from severe congenital neutropenia to leukemia, a better understanding of how heterozygous mutations in neutrophil elastase (ELA2) cause severe congenital neutropenia, molecular characterization of a novel syndromic form of severe congenital neutropenia called p14 deficiency and new animal models for several syndromic forms of severe congenital neutropenia. SUMMARY: We consider the numerous genes mutated in severe congenital neutropenia, the many attempts to make animal models of severe congenital neutropenia, and the results from both human and mouse studies investigating the molecular mechanisms of neutrophil apoptosis. Investigations of how severe congenital neutropenia genes and apoptosis pathways are connected should lead to a better understanding of the pathogenesis of neutropenia and apoptosis pathways relevant to many cell types. |
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Authors:
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Alejandro A Schäffer; Christoph Klein |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Current opinion in allergy and clinical immunology Volume: 7 ISSN: 1528-4050 ISO Abbreviation: Curr Opin Allergy Clin Immunol Publication Date: 2007 Dec |
Date Detail:
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Created Date: 2007-11-08 Completed Date: 2008-03-06 Revised Date: 2011-09-26 |
Medline Journal Info:
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Nlm Unique ID: 100936359 Medline TA: Curr Opin Allergy Clin Immunol Country: United States |
Other Details:
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Languages: eng Pagination: 481-94 Citation Subset: IM |
Affiliation:
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Computational Biology Branch, National Center for Biotechnology Information, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adaptor Proteins, Signal Transducing Animals Apoptosis / genetics, immunology* Disease Models, Animal Humans Neutropenia / congenital*, genetics*, immunology Neutrophils / immunology* Pancreatic Elastase / genetics, immunology Proteins / genetics, immunology |
| Grant Support | |
ID/Acronym/Agency:
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Z01 LM000097-06/LM/NLM NIH HHS; Z99 LM999999/LM/NLM NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Adaptor Proteins, Signal Transducing; 0/HAX1 protein, human; 0/Proteins; EC 3.4.21.36/Pancreatic Elastase |
| Comments/Corrections | |
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