Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Intrauterine intestinal obstruction in a preterm infant with severe mevalonate kinase deficiency - a case report.
Hoermann H et al.
Maternal Health, Neonatology and Perinatology, 2025
Insights into the multifaceted role of interleukin-37 on human immune cell regulation.
Teufel LU et al.
Clinical Immunology (orlando, Fla.), 2024
Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study.
Yıldız F et al.
Archives of Rheumatology, 2023
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
La Bella S et al.
Frontiers in Immunology, 2023
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
A rare cause of AA amyloidosis and end-stage kidney failure: Answers.
Taşdemir M et al.
Pediatric Nephrology (berlin, Germany), 2019
How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?
Rowczenio DM et al.
Presse Medicale (paris, France : 1983), 2019
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Tanaka T et al.
Modern Rheumatology, 2019
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.
Mezzavilla M et al.
Rheumatology International, 2018
Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).
Jeyaratnam J et al.
Jimd Reports, 2016
In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
Browne C et al.
Annals of Human Genetics, 2015
Periodic fever and hyperimmunoglobulin D syndrome in a boy with pediatric autoimmune neuropsychiatric disorders associated with group A β-Hemolytic streptococcus.
Ray PC et al.
Journal of Child and Adolescent Psychopharmacology, 2013
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S et al.
Developmental Disabilities Research Reviews, 2013
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Caso F et al.
International Journal of Rheumatology, 2013
Different clinical presentation of the hyperimmunoglobulin D syndrome (HIDS) (four cases from Turkey).
Tas DA et al.
Clinical Rheumatology, 2012
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.
Tahara M et al.
Modern Rheumatology, 2011
On-demand anakinra treatment is effective in mevalonate kinase deficiency.
Bodar EJ et al.
Annals of the Rheumatic Diseases, 2011
Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report.
Korppi M et al.
Acta Paediatrica (oslo, Norway : 1992), 2011
[Hyperimmunoglobulinemia D and periodic fever syndrome].
Sakai H et al.
Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2011
Hyperimmunoglobulin D syndrome in childhood.
van der Hilst JC et al.
Current Rheumatology Reports, 2010
Hyper-IgD syndrome with novel mutation in a Japanese girl.
Naruto T et al.
Modern Rheumatology, 2009
Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.
van der Hilst JCH et al.
Medicine, 2008
A Case of Hyper IgD and Periodic Fever Syndrome in Japan.
Kawashima H et al.
Clinical Medicine. Case Reports, 2008
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.
Simon A et al.
Rheumatology (oxford, England), 2006
Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome.
van der Hilst JC et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2005
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Simon A et al.
Neurology, 2004
A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome.
Simon A et al.
The American Journal of Medicine, 2003
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.
Houten SM et al.
Human Molecular Genetics, 2002
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
Cuisset L et al.
European Journal of Human Genetics : Ejhg, 2001
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.
Houten SM et al.
Journal of Inherited Metabolic Disease, 2000
Current advances in the understanding and treatment of mevalonate kinase deficiency.
Esposito S et al.
International Journal of Immunopathology and Pharmacology, 0