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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: 2013
Teme:
Article
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki