Article
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
The Journal of experimental medicine - 1 Jun 2020
Béziat Vivien, Tavernier Simon J, Chen Yin-Huai, Ma Cindy S, Materna Marie, Laurence Arian, Staal Jens, Aschenbrenner Dominik, Roels Lisa, Worley Lisa, Claes Kathleen, Gartner Lisa, Kohn Lisa A, De Bruyne Marieke, Schmitz-Abe Klaus, Charbonnier Louis-Marie, Keles Sevgi, Nammour Justine, Vladikine Natasha, Maglorius Renkilaraj Majistor Raj Luxman, Seeleuthner Yoann, Migaud Mélanie, Rosain Jérémie, Jeljeli Mohamed, Boisson Bertrand, Van Braeckel Eva, Rosenfeld Jill A, Dai Hongzheng, Burrage Lindsay C, Murdock David R, Lambrecht Bart N, Avettand-Fenoel Véronique, Vogel Tiphanie P, Esther Charles R, Haskologlu Sule, Dogu Figen, Ciznar Peter, Boutboul David, Ouachée-Chardin Marie, Amourette Jean, Lebras Marie-Noëlle, Gauvain Clément, Tcherakian Colas, Ikinciogullari Aydan, Beyaert Rudi, Abel Laurent, Milner Joshua D, Grimbacher Bodo, Couderc Louis-Jean, Butte Manish J, Freeman Alexandra F, Catherinot Émilie, Fieschi Claire, Chatila Talal A, Tangye Stuart G, Uhlig Holm H, Haerynck Filomeen, Casanova Jean-Laurent, Puel Anne
Abstract excerpt
Autosomal dominant hyper-IgE syndrome (AD-HIES) is typically caused by dominant-negative (DN) STAT3 mutations. Patients suffer from cold staphylococcal lesions and mucocutaneous candidiasis, severe allergy, and skeletal abnormalities. We report 12 patients from 8 unrelated kindreds with AD-HIES due to DN IL6ST mutations. We identified seven different truncating mutations, one of which was recurrent. The mutant...
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