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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2019
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oai:doaj.org-article:4794db1b14dd41c4aa4952a5a41cb8682021-12-02T16:50:59ZA human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation10.1038/s41467-019-12704-62041-1723https://doaj.org/article/4794db1b14dd41c4aa4952a5a41cb8682019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12704-6https://doaj.org/toc/2041-1723Roquin-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.S. J. TavernierV. AthanasopoulosP. VerlooG. BehrensJ. StaalD. J. BogaertL. NaesensM. De BruyneS. Van GassenE. ParthoensJ. EllyardJ. CappelloL. X. MorrisH. Van GorpG. Van IsterdaelY. SaeysM. LamkanfiP. SchelstraeteJ. DehoorneV. BordonR. Van CosterB. N. LambrechtB. MentenR. BeyaertC. G. VinuesaV. HeissmeyerM. DullaersF. HaerynckNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-16 (2019) |
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EN |
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Science Q 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 A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
S. J. Tavernier |
| title |
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation |
| title_short |
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation |
| title_full |
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation |
| title_fullStr |
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation |
| title_full_unstemmed |
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation |
| title_sort |
human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense roquin-1 mutation |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/4794db1b14dd41c4aa4952a5a41cb868 |
| work_keys_str_mv |
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