The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

ABSTRACT: Purpose: Gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune dysregulation and immunodeficiency. The latter is often characterized by the susceptibility to recurrent Candida infections, resu...

Full description

Autores:

Franco Restrepo, José Luis
Orrego Arango, Julio César
Depner, Mark
Fuchs, Sebastian
Raabe, Jan
Frede, Natalie
Glocker, Cristina
Doffinger, Rainer
Gkrania Klotsas, Effrossyni
Kumararatne, Dinakantha
Atkinson, T Prescott
Schroeder Jr, Harry W.
Niehues, Tim
Dückers, Gregor
Stray Pedersen, Asbjørg
Baumann, Ulrich
Schmidt, Reinhold
Ben Shoshan, Moshe
McCusker, Christine
Abe Jacob, Cristina Miuki
Carneiro Sampaio, Magda
Devlin, Lisa A.
M Edgar, J David
Henderson, Paul
Russell, Richard K
Skytte, Anne Bine
Seneviratne, Suranjith L.
Wanders, Jennifer
Stauss, Hans
Meyts, Isabelle
Moens, Leen
Jesenak, Milos
Kobbe, Robin
Borte, Stephan
Borte, Michael
Wright, Dowain A
Hagin, David
Torgerson, Troy R
Grimbacher, Bodo

Tipo de recurso:

Article of investigation

Fecha de publicación:

2016

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/33357

Acceso en línea:

https://hdl.handle.net/10495/33357

Palabra clave:

Candidiasis Mucocutánea Crónica
Candidiasis, Chronic Mucocutaneous
Células Cultivadas
Cells, Cultured
Fosforilación
Phosphorylation
Factor de Transcripción STAT1
STAT1 Transcription Factor
Síndromes de Inmunodeficiencia
Immunologic Deficiency Syndromes
Leucocitos Mononucleares
Leukocytes, Mononuclear
Estructura Terciaria de Proteína
Protein Structure, Tertiary

Rights

openAccess

License

https://creativecommons.org/licenses/by/4.0/