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A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome
Autosomal dominant hyper-IgE syndrome caused by mutations in the transcription factor STAT3 (AD-HIES) is characterized by a collection of immunologic and non-immune features including eczema, recurrent infections, elevated IgE levels, and connective tissue anomalies. We report the case of a Qatari c...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491627/ https://www.ncbi.nlm.nih.gov/pubmed/31069200 http://dx.doi.org/10.3389/fped.2019.00130 |