Document Detail


The hyper-IgE syndromes.
MedLine Citation:
PMID:  18424333     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, rash, and recurrent bacterial infections of the skin and lung. Autosomal dominant HIES, the most common disease in this group, results from STAT3 mutations and has a variety of connective tissue and skeletal abnormalities. The genetic etiologies of the more rare autosomal recessive forms still need delineation. Treatment of these syndromes has relied on prophylactic and therapeutic antimicrobial agents and aggressive skin care. The new and evolving genetic and immunologic understandings of this previously elusive set of diseases should lead to more effective disease-specific therapies.
Authors:
Alexandra F Freeman; Steven M Holland
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Review    
Journal Detail:
Title:  Immunology and allergy clinics of North America     Volume:  28     ISSN:  0889-8561     ISO Abbreviation:  Immunol Allergy Clin North Am     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-04-21     Completed Date:  2008-08-12     Revised Date:  2012-03-07    
Medline Journal Info:
Nlm Unique ID:  8805635     Medline TA:  Immunol Allergy Clin North Am     Country:  United States    
Other Details:
Languages:  eng     Pagination:  277-91, viii     Citation Subset:  IM    
Affiliation:
Laboratory of Clinical Infectious Disease, National Institute of Allergy and Infectious Disease, Building 10, CRC B3-4141, MSC 1684, 9000 Rockville Pike, Bethesda, MD 20892-1684, USA.
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MeSH Terms
Descriptor/Qualifier:
Humans
Immunoglobulin E / blood*,  immunology
Infection / etiology
Job's Syndrome* / genetics,  immunology,  physiopathology,  therapy
STAT3 Transcription Factor / deficiency*,  genetics,  physiology
Grant Support
ID/Acronym/Agency:
N01-CO12400/CO/NCI NIH HHS; Z01 AI000647-16/AI/NIAID NIH HHS; Z99 AI999999/AI/NIAID NIH HHS
Chemical
Reg. No./Substance:
0/STAT3 Transcription Factor; 37341-29-0/Immunoglobulin E
Comments/Corrections

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