Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

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 patient...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Blood
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2016
Assuntos:
Clinical Trials and Observations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4920021/
https://ncbi.nlm.nih.gov/pubmed/27114460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2015-11-679902
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados