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Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept

Lookup NU author(s): Professor Andrew Cant


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Hereditary periodic fever syndromes comprise a group of distinct disease entities linked by the defining feature of recurrent febrile episodes. Hyper IgD with periodic fever syndrome (HIDS) is caused by mutations in the mevalonate kinase (MVK) gene. The mechanisms by which defects in the MVK gene cause febrile episodes are unclear and there is no uniformly effective treatment. Mutations of the TNFRSF1A gene may also cause periodic fever syndrome (TRAPS). Treatment with the TNFR-Fc fusion protein, etanercept, is effective in some patients with TRAPS, but its clinical usefulness in HIDS has not been reported. We describe a 3-year-old boy in whom genetic screening revealed a rare combination of two MVK mutations producing clinical HIDS as well as a TNFRSF1A P46L valiant present in about 1% of the population. In vitro functional assays demonstrated reduced receptor shedding in proband's monocytes. The proband therefore appears to have a novel clinical entity combining Hyper IgD syndrome with defective TNFRSF1A homeostasis, which is partially responsive to etanercept.

Publication metadata

Author(s): Arkwright PD, McDermottt MF, Houten SM, Frenkel J, Waterhan HR, Aganna E, Hammond LJ, Mirakian RM, Tomlin P, Vijaydurai PI, Cant AJ

Publication type: Article

Publication status: Published

Journal: Clinical and Experimental Immunology

Year: 2002

Volume: 130

Issue: 3

Pages: 484-488

ISSN (print): 0009-9104

ISSN (electronic): 1365-2249

Publisher: Wiley-Blackwell Publishing Ltd.


DOI: 10.1046/j.1365-2249.2002.02002.x


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