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

SJ, Tavernier; V, Athanasopoulos; P, Verloo; G, Behrens; J, Staal; DJ, Bogaert; L, Naesens; Bruyne M, De; Gassen S, Van; E, Parthoens; J, Ellyard; J, Cappello; LX, Morris; Gorp H, Van; Isterdael G, Van; Y, Saeys; M, Lamkanfi; P, Schelstraete; J, Dehoorne; V, Bordon; Coster R, Van; BN, Lambrecht; B, Menten; R, Beyaert; CG, Vinuesa; V, Heissmeyer; M, Dullaers; F, Haerynck

doi:10.1038/s41467-019-12704-6

Public

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

Shared by NobleBlocks on Oct 21, 2019 • 12:00 AM UTC

Authors:

Tavernier SJ

Athanasopoulos V

Verloo P

Abstract

Hyperinflammatory syndromes are life-threatening disorders caused by overzealous immune cell activation and cytokine release, often resulting from defects in negative feedback mechanisms. In the quintessential hyperinflammatory syndrome familial hemophagocytic lymphohistiocytosis (HLH), inborn error...

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