New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

BACKGROUND: Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT1. Several mutations, including R274W in particular, are recurre...

Descripción completa

Detalles Bibliográficos
Autores principales: Soltész, Beáta, Tóth, Beáta, Shabashova, Nadejda, Bondarenko, Anastasia, Okada, Satoshi, Cypowyj, Sophie, Abhyankar, Avinash, Csorba, Gabriella, Taskó, Szilvia, Sarkadi, Adrien Katalin, Méhes, Leonóra, Rozsíval, Pavel, Neumann, David, Chernyshova, Liudmyla, Tulassay, Zsolt, Puel, Anne, Casanova, Jean-Laurent, Sediva, Anna, Litzman, Jiri, Maródi, László
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2013
Materias:
Host Defence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756505/
https://www.ncbi.nlm.nih.gov/pubmed/23709754
http://dx.doi.org/10.1136/jmedgenet-2013-101570

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756505/
https://www.ncbi.nlm.nih.gov/pubmed/23709754
http://dx.doi.org/10.1136/jmedgenet-2013-101570

Ejemplares similares