Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report.
Ngowi E et al.
Journal of Medical Case Reports, 2025
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
De Benedetti F et al.
The New England Journal of Medicine, 2018
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Papa R et al.
Orphanet Journal of Rare Diseases, 2017
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
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.
Cantarini L et al.
Clinical Rheumatology, 2015
Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.
Santos JA et al.
Gene, 2014
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.
Moens LN et al.
Plos One, 2014
Different clinical presentation of the hyperimmunoglobulin D syndrome (HIDS) (four cases from Turkey).
Tas DA et al.
Clinical Rheumatology, 2012
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 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
A patient with hyper-IgD syndrome responding to anti-TNF treatment.
Demirkaya E et al.
Clinical Rheumatology, 2007
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins.
Hospach T et al.
Arthritis and Rheumatism, 2005