Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Autor: Vivien, Béziat, Simon J, Tavernier, Yin-Huai, Chen, Cindy S, Ma, Marie, Materna, Arian, Laurence, Jens, Staal, Dominik, Aschenbrenner, Lisa, Roels, Lisa, Worley, Kathleen, Claes, Lisa, Gartner, Lisa A, Kohn, Marieke, De Bruyne, Klaus, Schmitz-Abe, Louis-Marie, Charbonnier, Sevgi, Keles, Justine, Nammour, Natasha, Vladikine, Majistor Raj Luxman, Maglorius Renkilaraj, Yoann, Seeleuthner, Mélanie, Migaud, Jérémie, Rosain, Mohamed, Jeljeli, Bertrand, Boisson, Eva, Van Braeckel, Jill A, Rosenfeld, Hongzheng, Dai, Lindsay C, Burrage, David R, Murdock, Bart N, Lambrecht, Véronique, Avettand-Fenoel, Tiphanie P, Vogel, Charles R, Esther, Sule, Haskologlu, Figen, Dogu, Peter, Ciznar, David, Boutboul, Marie, Ouachée-Chardin, Jean, Amourette, Marie-Noëlle, Lebras, Clément, Gauvain, Colas, Tcherakian, Aydan, Ikinciogullari, Rudi, Beyaert, Laurent, Abel, Joshua D, Milner, Bodo, Grimbacher, Louis-Jean, Couderc, Manish J, Butte, Alexandra F, Freeman, Émilie, Catherinot, Claire, Fieschi, Talal A, Chatila, Stuart G, Tangye, Holm H, Uhlig, Filomeen, Haerynck, Jean-Laurent, Casanova, Anne, Puel

Publikováno v: Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2020, 217 (6), ⟨10.1084/jem.20191804⟩
The Journal of Experimental Medicine

International audience; 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 abnorm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::986f4b8ecddc725ede6ea398366d425a
https://hal.uvsq.fr/hal-02549533

Novel mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF and result in Aicardi-Goutières syndrome with severe end-organ involvement

Autor: Leslie Naesens, Nemegeer, Josephine, Roelens, Filip, Vallaeys, Lore, Meuwissen, Marije, Janssens, Katrien, Verloo, Patrick, Ogunjimi, Benson, Dimitri Hemelsoet, (UD-PrOZA), Program for Undiagnosed Rare Diseases, Levi Hoste, Lisa Roels, Marieke De Bruyne, Elfride De Baere, Jo Van Dorpe, Amélie Dendooven, Anne Sieben, Rice, Gillian, Tessa Kerre, Rudi Beyaert, Uggenti, Carolina, Crow, Yanick, Tavernier, Simon J., Jonathan Maelfait, Filomeen Haerynck

Publikováno v: Ghent University Academic Bibliography

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::37ab36a2781c746715c720f25f770a51
https://biblio.ugent.be/publication/8732651