Document Detail


Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestations.
MedLine Citation:
PMID:  19036057     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Autosomal dominant hyper IgE (HIES or Job's) syndrome is a rare primary immune deficiency characterized by eczema, recurrent skin and lung infections, extremely elevated serum IgE, and a variety of connective tissue and skeletal abnormalities. Individuals with HIES share a characteristic facial appearance and many oral manifestations including retained primary dentition, a high arched palate, variations of the oral mucosa and gingiva, and recurrent oral candidiasis. Mutations in STAT3 account for the majority, if not all, of the cases of autosomal dominant HIES, but the pathogenesis of the many varied features remains poorly understood. In this review, we discuss the clinical phenotype of HIES including immunologic and non-immunologic features, the genetics of HIES, and treatment.
Authors:
A F Freeman; D L Domingo; S M Holland
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Review     Date:  2008-11-25
Journal Detail:
Title:  Oral diseases     Volume:  15     ISSN:  1601-0825     ISO Abbreviation:  Oral Dis     Publication Date:  2009 Jan 
Date Detail:
Created Date:  2008-12-16     Completed Date:  2009-04-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508565     Medline TA:  Oral Dis     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  2-7     Citation Subset:  D    
Affiliation:
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
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MeSH Terms
Descriptor/Qualifier:
Candidiasis, Oral / immunology
Facies
Gingival Diseases / immunology
Humans
Job's Syndrome / genetics,  immunology*
Mouth Diseases / immunology*
Mouth Mucosa / pathology
Mutation / genetics
Palate / pathology
Phenotype
Recurrence
STAT3 Transcription Factor / genetics
Tooth Diseases / immunology*
Tooth, Deciduous / pathology
Grant Support
ID/Acronym/Agency:
N01-CO-12400/CO/NCI NIH HHS
Chemical
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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