Associated Papers
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.
Guan C et al.
Pediatric Rheumatology Online Journal, 2025
Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.
Faraci M et al.
Rheumatology (oxford, England), 2021
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Brennenstuhl H et al.
Journal of Inherited Metabolic Disease, 2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.
Rama M et al.
Clinical and Experimental Immunology, 2021
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease.
Pietrasanta C et al.
Clinical Immunology (orlando, Fla.), 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
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
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.
Burillo-Sanz S et al.
Scientific Reports, 2017
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Rusmini M et al.
Annals of the Rheumatic Diseases, 2016
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.
Cantarini L et al.
Clinical Rheumatology, 2015
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.
Lainka E et al.
Rheumatology International, 2012
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
Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene.
Pelagatti MA et al.
Arthritis and Rheumatism, 2011
Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?
Pallares-Ruiz N et al.
Plos One, 2010
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.
Rolland MO et al.
Journal of Inherited Metabolic Disease, 2005
[Periodic fever: the first Portuguese case-report of hyper-IgD syndrome (HIDS)].
Abreu TT
Acta Medica Portuguesa, 0