| Congenital neutropenia in a newborn. | |
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MedLine Citation:
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PMID: 21448199 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Severe congenital neutropenia (SCN) is a genetically heterogeneous, rare disorder defined by a persistent absolute neutrophil count <500k mm(-3) with neutrophil maturation arrest at the promyelocyte stage and an increased risk for infection as well as a propensity towards developing myelodysplastic syndrome and acute myelogenous leukemia. We report a case of incidentally identified SCN in a full-term, otherwise healthy infant girl. Routine complete blood counts obtained for follow up of ABO incompatibility-induced jaundice and anemia identified mild neutropenia at birth followed by severe persistent neutropenia by 1 week of birth. Genetic testing confirmed the clinical suspicion of SCN with the identification of a mutation in the ELANE gene. Prompt identification and treatment of infants with SCN is critical to minimizing morbidity and mortality; as such, a diagnosis of SCN must be considered in all infants with neutropenia even in the absence of infection. |
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Authors:
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K Walkovich; L A Boxer |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of perinatology : official journal of the California Perinatal Association Volume: 31 Suppl 1 ISSN: 1476-5543 ISO Abbreviation: J Perinatol Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-03-30 Completed Date: 2011-07-13 Revised Date: 2011-12-06 |
Medline Journal Info:
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Nlm Unique ID: 8501884 Medline TA: J Perinatol Country: United States |
Other Details:
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Languages: eng Pagination: S22-3 Citation Subset: IM |
Affiliation:
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Department of Pediatrics and Communicable Disease, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109-5178, USA. laboxer@umich.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Female Humans Infant, Newborn Leukocyte Elastase / genetics Mutation Neutropenia* / congenital, diagnosis, genetics |
| Chemical | |
Reg. No./Substance:
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EC 3.4.21.37/Leukocyte Elastase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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