Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Dysregulation of inflammasomes in autoinflammatory diseases.
Hou C et al.
Joint Bone Spine, 2025
Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.
Kılıç Könte E et al.
The Turkish Journal of Pediatrics, 2025
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.
Guan C et al.
Pediatric Rheumatology Online Journal, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 2025
Amyloidosis in Childhood: A Review of Clinical Features and Comparison with Adult Forms.
Zamarra GB et al.
Journal of Clinical Medicine, 2024
Insights into the multifaceted role of interleukin-37 on human immune cell regulation.
Teufel LU et al.
Clinical Immunology (orlando, Fla.), 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome.
Politiek FA et al.
Journal of Inherited Metabolic Disease, 2024
Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review.
Li Y et al.
Pediatric Rheumatology Online Journal, 2024
Long-term efficacy of canakinumab in hyperimmunoglobulin D syndrome.
Ozdemir Isik O et al.
International Journal of Rheumatic Diseases, 2024
Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases.
Fonollosa A et al.
Frontiers in Ophthalmology, 2024
Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.
Lengvári L et al.
Frontiers in Immunology, 2024
A case of neonatal sweet syndrome associated with mevalonate kinase deficiency.
Irwin M et al.
Pediatric Rheumatology Online Journal, 2023
NONSYNDROMIC RETINITIS PIGMENTOSA WITH BILATERAL RETINAL NEOVASCULARIZATION DUE TO HGSNAT MUTATION.
Carrera W et al.
Retinal Cases & Brief Reports, 2023
Renal involvement in monogenic autoinflammatory diseases: A narrative review.
La Bella S et al.
Nephrology (carlton, Vic.), 2023
Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study.
Yıldız F et al.
Archives of Rheumatology, 2023
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
Poker Y et al.
Frontiers in Genetics, 2023
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Dvaladze A et al.
Clinical Genetics, 2022
The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency.
Jeyaratnam J et al.
Pediatric Rheumatology Online Journal, 2022
Mevalonate kinase deficiency/Hyperimmunoglobulin D syndrome (MVK/HIDS) in a Differential Diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Familial Mediterranean Fever (FMF): A Case Report.
Aktaş B et al.
Turkish Archives of Pediatrics, 2022
Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.
Naumova E et al.
Frontiers in Immunology, 2022
Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Bader-Meunier B et al.
Inflammatory Bowel Diseases, 2021
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Brennenstuhl H et al.
Journal of Inherited Metabolic Disease, 2021
Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.
Di Donato G et al.
International Journal of Molecular Sciences, 2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.
Suri D et al.
Frontiers in Immunology, 2021
Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood.
Welzel T et al.
Frontiers in Immunology, 2021
Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency.
Politiek FA et al.
Frontiers in Immunology, 2021
AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.
Rodrigues F et al.
Seminars in Arthritis and Rheumatism, 2020
Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings.
Correa ARE et al.
Indian Pediatrics, 2020
Periodic fever syndromes and the autoinflammatory diseases (AIDs).
Marino A et al.
Journal of Translational Autoimmunity, 2020
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.
Govindaraj GM et al.
Plos One, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 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
Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.
Munoz MA et al.
Frontiers in Immunology, 2019
Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.
Bindoli S et al.
Frontiers in Endocrinology, 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
Efficacy of Continuous Interleukin 1 Blockade in Mevalonate Kinase Deficiency: A Multicenter Retrospective Study in 13 Adult Patients and Literature Review.
Deshayes S et al.
The Journal of Rheumatology, 2018
Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae.
Dunn K et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2018
MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.
Mezzavilla M et al.
Rheumatology International, 2018
A clinical update on inflammasomopathies.
Sönmez HE et al.
International Immunology, 2017