Mevalonate Kinase Deficiency Latest Advances
Find the Latest Research About Mevalonate Kinase Deficiency
Last Updated: 04/28/2026
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Found 469 publications
A Diagnostic Challenge: Recurrent Uveitis Leading to the Diagnosis of Hyper-IgD Syndrome in a 28-Year-Old Patient.
Journal: Ocular immunology and inflammation
Published: February 04, 2026
Targeting cytokine pathways: the role of biologics in autoinflammatory disorders.
Journal: Expert review of clinical immunology
Published: February 01, 2026
Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated.
Journal: Frontiers in immunology
Published: December 22, 2025
When to suspect monogenic autoinflammatory diseases in patients with digestive symptoms?
Journal: Clinics and research in hepatology and gastroenterology
Published: November 29, 2025
A nephritic puzzle: C3-dominant glomerulonephritis as a sentinel of hidden autoinflammatory disease.
A nephritic puzzle: C3-dominant glomerulonephritis as a sentinel of hidden autoinflammatory disease.
Journal: Pediatric nephrology (Berlin, Germany)
Published: November 26, 2025
Pyrin inflammasome activation triggers an IL-18-driven IFN-γ response in mevalonate kinase deficiency.
Journal: The Journal of allergy and clinical immunology
Published: November 25, 2025
Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort.
Journal: Seminars in arthritis and rheumatism
Published: October 19, 2025
Mevalonate kinase deficiency diagnosed in late adolescence presenting with macrophage activation syndrome.
Journal: Clinical and experimental rheumatology
Published: August 07, 2025
Mevalonate kinase deficiency: Neuropathologic findings in an autopsy brain.
Journal: Journal of neuropathology and experimental neurology
Published: July 31, 2025
Case Report: Clinical application of an in vitro prenylation assay in the diagnosis of an early-onset case of mevalonate kinase deficiency harbouring a novel MVK variant.
Journal: Frontiers in pediatrics
Published: July 15, 2025
Case Report: Mevalonate kinase deficiency: an underdiagnosed cause of ischemic stroke-characterization of a novel genetic variant.
Journal: Frontiers in immunology
Published: July 03, 2025
Rare Coexistence of Hidradenitis Suppurativa and Hyper-IgD Syndrome With Homozygous MVK V377I and Compound Heterozygous MEFV (M680I/E148Q) Mutations.
Journal: Pediatric dermatology
Published: May 21, 2025
Last Updated: 04/28/2026