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The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations

BACKGROUND: 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 analyz...

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Detalles Bibliográficos
Autores principales: Lin, Li, Wang, Ying, Sun, Bijun, Liu, Luyao, Ying, Wenjing, Wang, Wenjie, Zhou, Qinhua, Hou, Jia, Yao, Haili, Hu, Liyuan, Sun, Jinqiao, Wang, Xiaochuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7491347/
https://www.ncbi.nlm.nih.gov/pubmed/32944025
http://dx.doi.org/10.1186/s13223-020-00462-w