A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Roquin-1 is a posttranscriptional regulator that controls the expression of many immune-related genes such as ICOS and TNFA. Here, the authors report a homozygous R688* loss of function mutation in Roquin-1 in a patient with syndromic uncontrolled hyperinflammation associated with immune cell activa...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: S. J. Tavernier, V. Athanasopoulos, P. Verloo, G. Behrens, J. Staal, D. J. Bogaert, L. Naesens, M. De Bruyne, S. Van Gassen, E. Parthoens, J. Ellyard, J. Cappello, L. X. Morris, H. Van Gorp, G. Van Isterdael, Y. Saeys, M. Lamkanfi, P. Schelstraete, J. Dehoorne, V. Bordon, R. Van Coster, B. N. Lambrecht, B. Menten, R. Beyaert, C. G. Vinuesa, V. Heissmeyer, M. Dullaers, F. Haerynck
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
Materias:
Science
Q
Acceso en línea:https://doaj.org/article/4794db1b14dd41c4aa4952a5a41cb868
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
Descripción
Sumario:Roquin-1 is a posttranscriptional regulator that controls the expression of many immune-related genes such as ICOS and TNFA. Here, the authors report a homozygous R688* loss of function mutation in Roquin-1 in a patient with syndromic uncontrolled hyperinflammation associated with immune cell activation and hypercytokinemia.

Ejemplares similares