Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China
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 p...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2010-01-01
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| Series: | Clinical and Developmental Immunology |
| Online Access: | http://dx.doi.org/10.1155/2010/289873 |
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| _version_ | 1832567194533232640 |
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| author | Lixin Xie Xiaoxiang Hu Yang Li Weihua Zhang Liang'an Chen |
| author_facet | Lixin Xie Xiaoxiang Hu Yang Li Weihua Zhang Liang'an Chen |
| author_sort | Lixin Xie |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c4ba1819f0574895b407b9944f1b8c79 |
| institution | Kabale University |
| issn | 1740-2522 1740-2530 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical and Developmental Immunology |
| spelling | doaj-art-c4ba1819f0574895b407b9944f1b8c792025-02-03T01:02:11ZengWileyClinical and Developmental Immunology1740-25221740-25302010-01-01201010.1155/2010/289873289873Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland ChinaLixin Xie0Xiaoxiang Hu1Yang Li2Weihua Zhang3Liang'an Chen4Department of Respiratory Medicine, Chinese PLA General Hospital, 28th Fuxing Road, Beijing 100853, ChinaState Key Laboratory for Agribiotechnology, China Agricultural University, Beijing 100094, ChinaState Key Laboratory for Agribiotechnology, China Agricultural University, Beijing 100094, ChinaDepartment of Respiratory Medicine, Chinese PLA General Hospital, 28th Fuxing Road, Beijing 100853, ChinaDepartment of Respiratory Medicine, Chinese PLA General Hospital, 28th Fuxing Road, Beijing 100853, ChinaHyper-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.http://dx.doi.org/10.1155/2010/289873 |
| spellingShingle | Lixin Xie Xiaoxiang Hu Yang Li Weihua Zhang Liang'an Chen Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China Clinical and Developmental Immunology |
| title | Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China |
| title_full | Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China |
| title_fullStr | Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China |
| title_full_unstemmed | Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China |
| title_short | Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China |
| title_sort | hyper ige syndrome with stat3 mutation a case report in mainland china |
| url | http://dx.doi.org/10.1155/2010/289873 |
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