Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism

BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is caused by mutations in signal transducer and activator of transcription 3 (STAT3). We describe 2 subjects in whom somatic mosaicism was associated with intermediate phenotypes. OBJECTIVE: Somatic mosaics might shed light on the pathogene...

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Autori principali: Hsu, Amy P., Sowerwine, Kathryn J., Lawrence, Monica G., Davis, Joie, Henderson, Carolyn J., Zarember, Kol A., Garofalo, Mary, Gallin, John I., Kuhns, Douglas B., Heller, Theo, Milner, Joshua D., Puck, Jennifer M., Freeman, Alexandra F., Holland, Steven M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2013
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4103905/
https://ncbi.nlm.nih.gov/pubmed/23623265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2013.02.038
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