Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome

@article{Drenth1999MutationsIT,
  title={Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome},
  author={Joost P. H. Drenth and Laurence Cuisset and Gilles Grateau and C. Vasseur and Saskia D. Velde-Visser and J.G.N. de Jong and Jacques S. Beckmann and Jos W. M. van der Meer and Marc Delpech contributing members of the International Group},
  journal={Nature Genetics},
  year={1999},
  volume={22},
  pages={178-181}
}
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare, apparently monogenic, autosomal recessive disorder characterized by recurrent episodes of fever accompanied with lymphadenopathy, abdominal distress, joint involvement and skin lesions. All patients have high serum IgD values (>100 U/ml) and HIDS 'attacks' are associated with an intense acute phase reaction whose exact pathophysiology remains obscure. Two other hereditary febrile disorders have been described… Expand
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
TLDR
It is proposed that the diagnostic screen of MVK in HIDS should be first directed on V377I and I268T mutations, which are located all along the protein which is different from mevalonic aciduria where MK mutations are mainly clustered to a same region of the protein. Expand
Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome
TLDR
A family of eldest son and monozygotic twin younger sisters with characteristic syndrome of HIDS, but normal level of IgD, is described, the first case in which exon skipping mutation of the MVK gene has been certainly identified at the genomic DNA level. Expand
[MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome].
  • T. Naruto
  • Medicine
  • Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology
  • 2007
TLDR
During febrile episodes, urinary mevalonate concentrations were found to be significantly elevated in patients, and the therapy attempt with statins, which is inhibited the next enzyme after HMG-CoA reductase, or inhibit the proinflammatory cytokines. Expand
Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)
TLDR
Individuals who are homozygous for the common p.V377I mutation in the MVK gene may not display the characteristic inflammatory episodes diagnostic of MKD and thus may be lost for correct and timely diagnosis. Expand
Periodic Fever in MVK Deficiency: A Patient Initially Diagnosed With Incomplete Kawasaki Disease
TLDR
This case shows that the initial presentation of MKD can be indistinguishable from incomplete Kawasaki syndrome, and when fever recurs in Kawasaki Syndrome, other (auto-)inflammatory diseases must be ruled out to avoid inappropriate diagnostic procedures, ineffective interventions, and treatment delay. Expand
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome
TLDR
A gene, called CIAS1, is expressed in peripheral blood leukocytes and encodes a protein with a pyrin domain, a nucleotide-binding site (NBS, NACHT subfamily) domain and a leucine-rich repeat (LRR) motif region, suggesting a role in the regulation of inflammation and apoptosis. Expand
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome
TLDR
A case series of HIDS from India, which includes ten patients from six families who presented with a wide spectrum of clinical features such as recurrent fever, oral ulcers, rash, arthritis, recurrent diarrhea, hepatosplenomegaly, and high immunoglobulin levels is reported. Expand
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever
TLDR
It is demonstrated that MKD is a common cause of recurrent fever also in the Italian population, where it is associated with both a wide spectrum of previously unreported MVK mutations and peculiar phenotypic features. Expand
Hyper-IgD syndrome and hereditary periodic fever syndromes
TLDR
The hyper-IgD syndrome (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD and generalized inflammation that persists during the entire life although frequency and severity tend to diminish with age. Expand
A Novel Missense Mutation in MVK Associated With MK Deficiency and Dyserythropoietic Anemia
TLDR
A patient with MKD and congenital dyserythropoietic anemia was diagnosed with mild dysmorphic features and elevated urinary mevalonic acid levels in the absence of an inflammatory attack, suggesting an intermediate phenotype between HIDS and MA. Expand
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