Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome

SM Houten, J Frenkel, GT Rijkers… - Human molecular …, 2002 - academic.oup.com
Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria are autosomal
recessive disorders characterized by recurrent episodes of fever and generalized …

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

L Cuisset, JPH Drenth, A Simon, MF Vincent… - European Journal of …, 2001 - nature.com
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) is an autosomal
recessive inflammatory disorder characterised by recurrent episode of fever associated with …

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic …

SM Houten, J Koster, GJ Romeijn, J Frenkel… - European Journal of …, 2001 - nature.com
Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome
(HIDS) are two autosomal recessive inherited disorders both caused by a deficient activity of …

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

SHL Mandey, MS Schneiders, J Koster… - Human …, 2006 - Wiley Online Library
Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder
caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase …

Carrier frequency of the V377I (1129G> A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands

SM Houten, CS van Woerden, FA Wijburg… - European journal of …, 2003 - nature.com
Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria (MA) are two
autosomal recessive disorders that both are caused by a deficient activity of the enzyme …

Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin?

M Tsimaratos, I Kone-Paut, P Divry… - Journal of inherited …, 2001 - search.proquest.com
Mevalonic aciduria (MVA; McKusick 251170) is and autosomal recessive disorder
characterized by sever failure to thrive, developmental delay, anaemia …

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever

A D'Osualdo, P Picco, F Caroli, M Gattorno… - European journal of …, 2005 - nature.com
Autosomal recessive autoinflammatory disorder caused by mutations of the mevalonate
kinase gene (MVK), leading to mild, incomplete MK enzyme deficiency (MKD), has been …

[PDF][PDF] Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation

S Normand, B Massonnet, A Delwail… - European cytokine …, 2009 - researchgate.net
The mevalonate kinase deficiency (MKD), including hyperimmunoglobulinemia D periodic
fever syndrome (HIDS) and the more severe mevalonic aciduria are rare, autosomal …

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

SM Houten, W Kuis, M Duran, TJ De Koning… - Nature …, 1999 - nature.com
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an
autosomal recessive disorder characterized by recurrent episodes of fever associated with …

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D

J Frenkel, SM Houten, HR Waterham… - …, 2001 - academic.oup.com
Objectives. The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was
found recently to be caused by a deficiency of mevalonate kinase (MK). The aim of this study …