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...
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Bibliographic Details
| Main 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 |
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| Format: | Article
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| Language: | English |
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| Published: |
Nature Publishing Group
2019-10-01
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| Series: | Nature Communications
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| Online Access: | https://doi.org/10.1038/s41467-019-12704-6
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