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artículo

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

Publicado por
Toubiana, Julie, Okada, Satoshi, Hiller, Julia, Oleastro, Matías, Lagos Gomez, Macarena, Aldave Becerra, Juan Carlos, Ouachée-Chardin, Marie, Fouyssac, Fanny, Mohan Girisha, Katta, Etzioni, Amos, Van Montfrans, Joris, Camcioglu, Yildiz, Kerns, Leigh Ann, Belohradsky, Bernd, Blanche, Stephane, 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, Caludia

Publicado 2016

Enlace

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, immunological parameters, treatment, and outcome were recorded. The median age of the 274 patients was 22 years (range, 1-71 years); 98% of them had CMC, with a median age at onset of 1 year (range, 0-24 years). Patients often displayed bacterial (74%) infections, mostly because of Staphylococcus aureus (36%), including the respiratory tract and the skin in 47% and 28% of patients, respectively, and viral (38%) infections, mostly because of Herpesviridae (83%) and affecting the skin in 32%...