| Genetic insights into congenital neutropenia. | |
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MedLine Citation:
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PMID: 19440858 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital neutropenia syndromes comprise a heterogeneous group of disorders leading to increased susceptibility to bacterial infections. Recent work has elucidated the molecular basis of several congenital neutropenia syndromes such as mutations in ELA2, HAX1, GF11, and WAS. In addition, a number of complex clinical syndromes associating congenital neutropenia have been recognized and elucidated on a genetic level, e.g. p14-deficiency or G6PC3-deficiency. The clinical and genetic findings of various neutropenia syndromes are being discussed. |
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Authors:
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Christoph Klein; Karl Welte |
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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: Clinical reviews in allergy & immunology Volume: 38 ISSN: 1559-0267 ISO Abbreviation: Clin Rev Allergy Immunol Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-01-25 Completed Date: 2010-04-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9504368 Medline TA: Clin Rev Allergy Immunol Country: United States |
Other Details:
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Languages: eng Pagination: 68-74 Citation Subset: IM |
Affiliation:
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Department of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany. klein.christoph@mh-hannover.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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DNA-Binding Proteins
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genetics Glucose-6-Phosphatase / genetics Humans Immunologic Deficiency Syndromes / congenital*, genetics* Leukocyte Elastase / genetics Mutation Neutropenia / complications, congenital*, genetics* Proteins / genetics Transcription Factors / genetics |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; 0/GFI1 protein, human; 0/HAX1 protein, human; 0/Proteins; 0/Transcription Factors; EC 3.1.3.9/Glucose-6-Phosphatase; EC 3.1.3.9./G6PC3 protein, human; EC 3.4.21.37/Leukocyte Elastase |
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