Article
Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept.
Clinical and experimental immunology - 1 Dec 2002
Arkwright P D, McDermott M F, Houten S M, Frenkel J, Waterham H R, Aganna E, Hammond L J, Mirakian R M, Tomlin P I, Vijaydurai P I, Cant A J
Abstract excerpt
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...
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