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 Christian 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… 

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

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.

Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome

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.

[MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome].

  • T. Naruto
  • Medicine, Biology
    Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology
  • 2007
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.

Periodic Fever in MVK Deficiency: A Patient Initially Diagnosed With Incomplete Kawasaki Disease

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.

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome

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.

Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome

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.

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

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.

Hyper-IgD syndrome and hereditary periodic fever syndromes

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.

A Novel Missense Mutation in MVK Associated With MK Deficiency and Dyserythropoietic Anemia

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.

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

A girl with heterozygosity for the common MVK V377I mutation and for a novel T1132 → C transition, leading to the exchange of serine by proline at amino-acid position 378 presented only with mild clinical features typical of HIDS and slightly increased immunoglobulin D levels, but a distinctly diminished MK activity.
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