Ontology highlight
ABSTRACT:
SUBMITTER: Beziat V
PROVIDER: S-EPMC6141026 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Béziat Vivien V Li Juan J Lin Jian-Xin JX Ma Cindy S CS Li Peng P Bousfiha Aziz A Pellier Isabelle I Zoghi Samaneh S Baris Safa S Keles Sevgi S Gray Paul P Du Ning N Wang Yi Y Zerbib Yoann Y Lévy Romain R Leclercq Thibaut T About Frédégonde F Lim Ai Ing AI Rao Geetha G Payne Kathryn K Pelham Simon J SJ Avery Danielle T DT Deenick Elissa K EK Pillay Bethany B Chou Janet J Guery Romain R Belkadi Aziz A Guérin Antoine A Migaud Mélanie M Rattina Vimel V Ailal Fatima F Benhsaien Ibtihal I Bouaziz Matthieu M Habib Tanwir T Chaussabel Damien D Marr Nico N El-Benna Jamel J Grimbacher Bodo B Wargon Orli O Bustamante Jacinta J Boisson Bertrand B Müller-Fleckenstein Ingrid I Fleckenstein Bernhard B Chandesris Marie-Olivia MO Titeux Matthias M Fraitag Sylvie S Alyanakian Marie-Alexandra MA Leruez-Ville Marianne M Picard Capucine C Meyts Isabelle I Di Santo James P JP Hovnanian Alain A Somer Ayper A Ozen Ahmet A Rezaei Nima N Chatila Talal A TA Abel Laurent L Leonard Warren J WJ Tangye Stuart G SG Puel Anne A Casanova Jean-Laurent JL
Science immunology 20180601 24
Heterozygosity for human <i>signal transducer and activator of transcription 3</i> (<i>STAT3</i>) dominant-negative (DN) mutations underlies an autosomal dominant form of hyper-immunoglobulin E syndrome (HIES). We describe patients with an autosomal recessive form of HIES due to loss-of-function mutations of a previously uncharacterized gene, <i>ZNF341</i> ZNF341 is a transcription factor that resides in the nucleus, where it binds a specific DNA motif present in various genes, including the <i> ...[more]