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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 other STAT3 variants from the general population. Strikingly, all 15 out-of-frame variants were DN via their encoded (1) truncated proteins, (2) neoproteins generated from a translation reinitiation codon, and (3) isoforms from alternative transcripts or a combination thereof. Moreover, 128 of the 135 in-frame variants (95%) were also DN. The patients carrying the seven non-DN STAT3 in-frame variants have not been studied for other genetic etiologies. Finally, none of the variants from the general population tested, including an out-of-frame variant, were DN. Overall, our findings show that heterozygous STAT3 variants, whether in or out of frame, underlie AD-HIES through negative dominance rather than haploinsufficiency.<\/jats:p>","DOI":"10.1084\/jem.20202592","type":"journal-article","created":{"date-parts":[[2021,5,19]],"date-time":"2021-05-19T02:21:54Z","timestamp":1621390914000},"update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":61,"title":["Human\n                    <i>STAT3<\/i>\n                    variants underlie autosomal dominant hyper-IgE syndrome by negative dominance"],"prefix":"10.1084","volume":"218","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1424-2433","authenticated-orcid":true,"given":"Takaki","family":"Asano","sequence":"first","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 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Rockefeller Branch, The Rockefeller University, New York, NY 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0772-4805","authenticated-orcid":true,"given":"Maya","family":"Chrabieh","sequence":"additional","affiliation":[{"name":"Paris University, Imagine Institute, Paris, France 2"},{"name":"Laboratory of Human Genetics of Infectious Disease, Necker Branch, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U1163, Paris, France 3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1112-9320","authenticated-orcid":true,"given":"Ji Eun","family":"Han","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 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