Hyper IgE syndrome associated with novel and recurrent STAT3 mutations: Two case reports

RATIONALE: Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency presenting as two forms including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES), which are mainly caused by mutations in STAT3 and DOCK8, respectively. To date, only about 500 cases have been reported...

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Detalles Bibliográficos
Autores principales: Deng, Ying, Li, Tong, Xie, Xiaoqin, Xia, Dengmei, Ding, Li, Xiang, Hongmei, Ma, Jessie J., Li, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380800/
https://www.ncbi.nlm.nih.gov/pubmed/30732127
http://dx.doi.org/10.1097/MD.0000000000014003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380800/
https://www.ncbi.nlm.nih.gov/pubmed/30732127
http://dx.doi.org/10.1097/MD.0000000000014003

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