Article
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Blood - 23 Jun 2016
Toubiana Julie, Okada Satoshi, Hiller Julia, Oleastro Matias, Lagos Gomez Macarena, Aldave Becerra Juan Carlos, Ouachée-Chardin Marie, Fouyssac Fanny, Girisha Katta Mohan, Etzioni Amos, Van Montfrans Joris, Camcioglu Yildiz, Kerns Leigh Ann, Belohradsky Bernd, Blanche Stéphane, Bousfiha Aziz, Rodriguez-Gallego Carlos, Meyts Isabelle, Kisand Kai, Reichenbach Janine, Renner Ellen D, Rosenzweig Sergio, Grimbacher Bodo, van de Veerdonk Frank L, Traidl-Hoffmann Claudia, Picard Capucine, Marodi Laszlo, Morio Tomohiro, Kobayashi Masao, Lilic Desa, Milner Joshua D, Holland Steven, Casanova Jean-Laurent, Puel Anne
Abstract excerpt
Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries from 5 continents. Demographic data, clinical features,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.