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...

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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Chaimowitz, Natalia S., Branch, Justin, Reyes, Anaid, Vargas-Hernández, Alexander, Orange, Jordan S., Forbes, Lisa R., Ehlayel, Mohammed, Purayil, Saleema C., Al-Nesf, Maryam Ali, Vogel, Tiphanie P.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6491627/
https://ncbi.nlm.nih.gov/pubmed/31069200
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00130
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