Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity

We present the case of a 19-year-old female with a mild form of Autosomal Dominant Hyper IgE syndrome (HIES) associated with a loss-of-function mutation in STAT3. Within the first years of life she developed multiple, Staphylococcus aureus associated abscesses in the neck and face requiring frequent...

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Detalles Bibliográficos
Autores principales: Bahal, Sameer, Houssen, Maha E., Manson, Ania, Lorenzo, Lorena, Russell, Mark A., Morgan, Noel G., Tahami, Fariba, Grigoriadou, Sofia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815622/
https://www.ncbi.nlm.nih.gov/pubmed/31737384
http://dx.doi.org/10.1155/2019/1869524

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