Cargando…
Gain-of-function mutation in IFIH1 can cause both aicardi-goutières syndrome and systemic lupus erythematosus with IgA-deficiency
Autores principales: | Van Eyck, Lien, De Somer, Lien, Pombal, Diana, Bornschein, Simon, de Zegher, Francis, Liston, Adrian, Wouters, Carine |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4191605/ http://dx.doi.org/10.1186/1546-0096-12-S1-P309 |
Ejemplares similares
-
Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation
por: Tüngler, Victoria, et al.
Publicado: (2019) -
Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1
por: Xiao, Wei, et al.
Publicado: (2021) -
Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi–Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency
por: Železnik, Mojca, et al.
Publicado: (2023) -
MRI Features Predictive of Aicardi-Goutieres Syndrome
por: Millichap, J. Gordon
Publicado: (2015) -
Aicardi–Goutières Syndrome: Brief Case Report
por: Moscote-Salazar, Luis Rafael, et al.
Publicado: (2018)