| Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China. | |
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MedLine Citation:
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PMID: 20490271 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities. Itis reported that some cases of familial HIES are relative to autosomal dominant or recessive inheritance, but most cases are sporadic, and result from mutations in the human signal transducer and activator of transcription 3 (STAT3) gene. In this paper, we firstly report a young man diagnosed of Hyper-IgE syndrome with STAT3 mutation in Mainland China, and investigate the autosomal dominant trait of his family members. |
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Authors:
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Lixin Xie; Xiaoxiang Hu; Yang Li; Weihua Zhang; Liang'an Chen |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-05-17 |
Journal Detail:
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Title: Clinical & developmental immunology Volume: 2010 ISSN: 1740-2530 ISO Abbreviation: Clin. Dev. Immunol. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-05-21 Completed Date: 2010-09-14 Revised Date: 2010-09-28 |
Medline Journal Info:
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Nlm Unique ID: 101183692 Medline TA: Clin Dev Immunol Country: England |
Other Details:
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Languages: eng Pagination: 289873 Citation Subset: IM |
Affiliation:
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Department of Respiratory Medicine, Chinese PLA General Hospital, 28th Fuxing Road, Beijing 100853, China. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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China DNA Mutational Analysis Eczema Humans Immunoglobulin E / blood Job's Syndrome / blood, complications, diagnosis, genetics*, physiopathology Lung / abnormalities, microbiology, radiography, surgery Male Mutation / genetics* Pedigree Pneumonia, Staphylococcal / blood, diagnosis, etiology, genetics*, physiopathology STAT3 Transcription Factor / biosynthesis, genetics* Staphylococcus aureus / immunology*, pathogenicity Tomography, X-Ray Computed Young Adult |
| Chemical | |
Reg. No./Substance:
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0/STAT3 Transcription Factor; 37341-29-0/Immunoglobulin E |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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