Allele-Specific Disruption of a Common STAT3 Autosomal Dominant Allele Is Not Sufficient to Restore Downstream Signaling in Patient-Derived T Cells

Dominant negative mutations in the STAT3 gene account for autosomal dominant hyper-IgE syndrome (AD-HIES). Patients typically present high IgE serum levels, recurrent infections, and soft tissue abnormalities. While current therapies focus on alleviating the symptoms, hematopoietic stem cell transpl...

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Detalles Bibliográficos
Autores principales: König, Saskia, Fliegauf, Manfred, Rhiel, Manuel, Grimbacher, Bodo, Cornu, Tatjana I., Cathomen, Toni, Mussolino, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601366/
https://www.ncbi.nlm.nih.gov/pubmed/36292796
http://dx.doi.org/10.3390/genes13101912

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