Cargando…
TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency
Autores principales: | Aksentijevich, Ivona, Zhou, Qing, Giannelou, Angeliki, Sediva, Anna, Stone, Deborah, Rosenzweig, Sergio, Edwan, Jehad, Pelletier, Martin, Monique, Stoffels, Šrámková, Lucie, Ombrello, Amanda, Barron, Karyl, Kastner, Daniel |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184140/ http://dx.doi.org/10.1186/1546-0096-12-S1-O21 |
Ejemplares similares
-
Immune dysregulation in patients with TRNT1 deficiency
por: Giannelou, A, et al.
Publicado: (2015) -
When less is more: primary immunodeficiency with an autoinflammatory kick
por: Giannelou, Angeliki, et al.
Publicado: (2014) -
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors
por: Giannelou, Angeliki, et al.
Publicado: (2018) -
NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases
por: Aksentijevich, Ivona, et al.
Publicado: (2017) -
Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease
por: Beck, David B., et al.
Publicado: (2019)