Nature Communications (Oct 2019)

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

  • 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

DOI
https://doi.org/10.1038/s41467-019-12704-6
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 16

Abstract

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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.