A recessive form of Hyper IgE Syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

Heterozygosity for human STAT3 dominant-negative (DN) mutations underlies an autosomal dominant form of hyper-IgE syndrome (HIES). We describe patients with an autosomal recessive form of HIES due to loss-of-function mutations of a previously uncharacterized gene, ZNF341. ZNF341 is a transcription f...

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Opis bibliograficzny
Wydane w:Sci Immunol
Główni autorzy: Béziat, Vivien, Li, Juan, Lin, Jian-Xin, Ma, Cindy S., Li, Peng, Bousfiha, Aziz, Pellier, Isabelle, Zoghi, Samaneh, Baris, Safa, Keles, Sevgi, Gray, Paul, Du, Ning, Wang, Yi, Zerbib, Yoann, Lévy, Romain, Leclercq, Thibaut, About, Frédégonde, Lim, Ai Ing, Rao, Geetha, Payne, Kathryn, Pelham, Simon J, Avery, Danielle T, Deenick, Elissa K, Pillay, Bethany, Chou, Janet, Guery, Romain, Belkadi, Aziz, Guérin, Antoine, Migaud, Mélanie, Rattina, Vimel, Ailal, Fatima, Benhsaien, Ibtihal, Bouaziz, Mathieu, Tanwir, Habib, Chaussabel, Damien, Marr, Nico, Benna, Jamel El, Grimbacher, Bodo, Wargon, Orli, Bustamante, Jacinta C., Boisson, Bertrand, Müller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Chandesris, Marie-Olivia, Titeux, Matthias, Fraitag, Sylvie, Alyanakian, Marie-Alexandra, Leruez-Ville, Marianne, Picard, Capucine, Meyts, Isabelle, Di Santo, James P., Hovnanian, Alain, Somer, Ayper, Ozen, Ahmet, Rezaei, Nima, Chatila, Talal, Abel, Laurent, Leonard, Warren J., Tangye, Stuart G., Puel, Anne, Casanova, Jean-Laurent
Format: Artigo
Język:Inglês
Wydane: 2018
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Article
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6141026/
https://ncbi.nlm.nih.gov/pubmed/29907691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/sciimmunol.aat4956
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