Document Detail

Hyper-IgE syndrome update.
MedLine Citation:
PMID:  22268731     Owner:  NLM     Status:  MEDLINE    
Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job's syndrome is a primary immunodeficiency with a wide array of clinical features caused by dominant negative mutations in STAT3. In recent years, not only the clinical phenotype of the disease has been expanded with recognition of features such as arterial aneurysms, but also our understanding of the pathogenesis of the disease has greatly improved.
Kathryn J Sowerwine; Steven M Holland; Alexandra F Freeman
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Intramural; Review     Date:  2012-01-23
Journal Detail:
Title:  Annals of the New York Academy of Sciences     Volume:  1250     ISSN:  1749-6632     ISO Abbreviation:  Ann. N. Y. Acad. Sci.     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-02-27     Completed Date:  2012-04-16     Revised Date:  2014-08-13    
Medline Journal Info:
Nlm Unique ID:  7506858     Medline TA:  Ann N Y Acad Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  25-32     Citation Subset:  IM    
Copyright Information:
© 2012 New York Academy of Sciences.
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MeSH Terms
Aneurysm / genetics,  immunology
Job Syndrome / genetics*,  immunology*,  pathology
Mutation / immunology*
STAT3 Transcription Factor / genetics*,  immunology*
Grant Support
Z01 AI000646-16/AI/NIAID NIH HHS
Reg. No./Substance:
0/STAT3 Transcription Factor; 0/STAT3 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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