A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

Heterozygous in-frame mutations in coding regions of human STAT3 underlie the only known autosomal dominant form of hyper IgE syndrome (AD HIES). About 5% of familial cases remain unexplained. The mutant proteins are loss-of-function and dominant-negative when tested following overproduction in reci...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Khourieh, Joëlle, Rao, Geetha, Habib, Tanwir, Avery, Danielle T., Lefèvre-Utile, Alain, Chandesris, Marie-Olivia, Belkadi, Aziz, Chrabieh, Maya, Alwaseem, Hanan, Grandin, Virginie, Sarrot-Reynauld, Françoise, Sénéchal, Agathe, Lortholary, Olivier, Kong, Xiao-Fei, Boisson-Dupuis, Stéphanie, Picard, Capucine, Puel, Anne, Béziat, Vivien, Zhang, Qian, Abel, Laurent, Molina, Henrik, Marr, Nico, Tangye, Stuart G., Casanova, Jean-Laurent, Boisson, Bertrand
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2019
Assuntos:
PNAS Plus
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6697804/
https://ncbi.nlm.nih.gov/pubmed/31346092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1901409116
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