Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype

Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations result in a primary immunodeficiency (PID) characterized typically by chronic mucocutaneous candidiasis (CMC), but a wider phenotypic range is reported and remains unexplained from a pathophysiological point-...

Descripción completa

Detalles Bibliográficos
Autores principales: Simone Giovannozzi, Veerle Lemmens, Jelle Hendrix, Rik Gijsbers, Rik Schrijvers
Formato: Artículo
Lenguaje:English
Publicado: Frontiers Media S.A. 2020-06-01
Colección:Frontiers in Immunology
Materias:
Acceso en línea:https://www.frontiersin.org/article/10.3389/fimmu.2020.01114/full