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

doi:10.1084/jem.20202592

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Article

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

The Journal of experimental medicine - 2 Aug 2021

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

Abstract excerpt

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 haploinsufficiency. We experimentally tested these 143 variants, 7 novel out-of-frame variants found in HIES patients, and...

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PMID: 34137790
DOI: 10.1084/jem.20202592
PMCID: PMC8217968

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Source receipt: pubmed, retrieved 7 Sept 2026.

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