Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally shown to be dominant negative (DN), and it has been recently suggested that eight out-of-frame variants operate by haploi...

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Publicado no:J Exp Med
Main Authors: Asano, Takaki, Khourieh, Joëlle, Zhang, Peng, Rapaport, Franck, Spaan, András N., Li, Juan, Lei, Wei-Te, Pelham, Simon J., Hum, David, Chrabieh, Maya, Han, Ji Eun, Guérin, Antoine, Mackie, Joseph, Gupta, Sudhir, Saikia, Biman, Baghdadi, Jamila E.I., Fadil, Ilham, Bousfiha, Aziz, Habib, Tanwir, Marr, Nico, Ganeshanandan, Luckshman, Peake, Jane, Droney, Luke, Williams, Andrew, Celmeli, Fatih, Hatipoglu, Nevin, Ozcelik, Tayfun, Picard, Capucine, Abel, Laurent, Tangye, Stuart G., Boisson-Dupuis, Stéphanie, Zhang, Qian, Puel, Anne, Béziat, Vivien, Casanova, Jean-Laurent, Boisson, Bertrand
Formato: Artigo
Idioma:Inglês
Publicado em: Rockefeller University Press 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8217968/
https://ncbi.nlm.nih.gov/pubmed/34137790
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20202592
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