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

Authors :: 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
Source :: Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Publication Year :: 2019
Publisher :: Nature Portfolio, 2019.
Abstract: 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.

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