The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations
The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations
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Author / Creator
Lin, Li , Wang, Ying , Sun, Bijun , Liu, Luyao , Ying, Wenjing , Wang, Wenjie , Zhou, Qinhua , Hou, Jia , Yao, Haili , Hu, Liyuan , Sun, Jinqiao and Wang, Xiaochuan
Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (STAT3) is one of the causes of STAT3 hyperimmunoglobulin E (IgE) syndrome (STAT3-HIES), while gain-of-function (GOF) mutations in STAT3 lead to immune dysregulation diseases. We retrospectively analyzed the age, common clinical symptoms, immunologic and molecula...
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Full title
The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations
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TN_cdi_doaj_primary_oai_doaj_org_article_429a5a35266a4a0d9f1d031b6ed6cf76
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_429a5a35266a4a0d9f1d031b6ed6cf76
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ISSN
1710-1492,1710-1484
E-ISSN
1710-1492
DOI
10.1186/s13223-020-00462-w
