| Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestations. | |
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MedLine Citation:
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PMID: 19036057 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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A F Freeman; D L Domingo; S M Holland |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Review Date: 2008-11-25 |
Journal Detail:
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Title: Oral diseases Volume: 15 ISSN: 1601-0825 ISO Abbreviation: Oral Dis Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2008-12-16 Completed Date: 2009-04-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9508565 Medline TA: Oral Dis Country: Denmark |
Other Details:
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Languages: eng Pagination: 2-7 Citation Subset: D |
Affiliation:
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Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Candidiasis, Oral
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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:
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N01-CO-12400/CO/NCI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/STAT3 Transcription Factor; 0/STAT3 protein, human |
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