Disease: Mevalonic aciduria
- A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease
- A case of neonatal sweet syndrome associated with mevalonate kinase deficiency
- A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype
- A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation
- AA amyloidosis presenting with acute kidney injury, curable or not?
- Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation
- An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment
- Analysis of clinical characteristics of 35 inflammasomopathies cases
- Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency
- Autoinflammation-differences between children and adults
- Autoinflammatory Diseases/Periodic Fevers
- Autoinflammatory Recurrent Pericarditis Associated with a New NLRP12 Mutation in a Male Adolescent
- B Cells at the Cross-Roads of Autoimmune Diseases and Auto-Inflammatory Syndromes
- Canakinumab improves patient-reported outcomes in children and adults with autoinflammatory recurrent fever syndromes: results from the CLUSTER trial
- Canakinumab treatment real world evidence in 3 monogenic periodic fever syndromes in 2009-2022: an interim analysis using the French JIR cohort database
- Cardiovascular manifestations of monogenic periodic fever syndromes
- Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa - A New Syndromic Form of HS? A Report of Two Cases
- Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation
- Clinical presentation and genetic variants in patients with autoinflammatory diseases: results from the German GARROD registry
- Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases
- Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency
- Corrigendum to: Haploidentical alpha/beta T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency
- Corrigendum to: Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency
- Current Evidence on Vaccinations in Pediatric and Adult Patients with Systemic Autoinflammatory Diseases
- Current treatment options for monogenic periodic fever syndromes - the role of interleukin 1 inhibitors
- Cyclic Fevers in Adult Diagnosed As Hyperimmunoglobulin D Syndrome
- Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa
- Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype
- Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults
- Differentiating children with familial Mediterranean fever from other recurrent fever syndromes: The utility of new Eurofever/PRINTO classification criteria
- Disseminated superficial actinic porokeratosis following hydroxyurea treatment: A case report
- Efficacy of Anakinra Treatment in two Moroccan Patients With Mevalonate Kinase Deficiency
- Expanding Contributions of Monogenic Very Early Onset Inflammatory Bowel Disease
- Experience on the long-term use of canakinumab in mevalonate kinase deficiency: A case series
- Fitness to Serve in the Armed Forces and Internal Medicine: A Retrospective Study
- Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis
- Glucose-oxygen deprivation constrains HMGCR function and Rac1 prenylation and activates the NLRP3 inflammasome in human monocytes
- Haploidentical alpha/beta T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency
- Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency
- Homozygous V377I mutation causing mevalonate kinase
- Hyper-IgD Syndrome: Caused by Deficiency on Ras Prenylation and Trained Immunity?
- Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome
- IL-1 Inhibitors in the Treatment of Monogenic Periodic Fever Syndromes: From the Past to the Future Perspectives
- Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab
- Incomplete mitophagy in the mevalonate kinase-deficient Saccharomyces cerevisiae and its relation to the MKD-related autoinflammatory disease in humans
- Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency
- Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches
- Interstitial lung disease in autoinflammatory disease in childhood: A systematic review of the literature
- Ischemic stroke is a potential complication of uncontrolled inflammation in mevalonate kinase deficiency - A case report
- Isolated neurological presentations of mevalonate kinase deficiency
- Joint manifestations revealing inborn metabolic diseases in adults: a narrative review
- Kidney Involvement in Autoinflammatory Diseases
- Lipids in inflammasome activation and autoinflammatory disorders
- Long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency: results from the randomised Phase 3 CLUSTER trial
- Long-term efficacy of canakinumab in hyperimmunoglobulin D syndrome
- Long-Term Follow-Up and Optimization of Interleukin-1 Inhibitors in the Management of Monogenic Autoinflammatory Diseases: Real-Life Data from the JIR Cohort
- Long-term safety and effectiveness of canakinumab in patients with monogenic autoinflammatory diseases: results from the interim analysis of the RELIANCE registry
- Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre
- Mevalonate kinase deficiency
- Mevalonate Kinase Deficiency and Squalene Synthase Inhibitor (TAK-475): The Balance to Extinguish the Inflammation
- Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease
- Mevalonate Kinase Deficiency: Diagnostic and Management Challenges
- 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
- Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation
- Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype
- Mevalonic Aciduria Associated With Intrahepatic Bile Duct Paucity
- Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings
- Molecular and cellular consequences of mevalonate kinase deficiency
- Neurological manifestations in mevalonate kinase deficiency: A systematic review
- Paradoxical hidradenitis suppurativa due to anti-interleukin-1 agents for mevalonate kinase deficiency successfully treated with the addition of ustekinumab
- Paradoxical hidradenitis suppurativa induced by adalimumab biosimilar successfully treated with guselkumab in a patient with psoriasis. Comment on 'Paradoxical hidradenitis suppurativa due to anti-interleukin-1 agents for mevalonate kinase deficiency
- Performance of recent PRINTO criteria versus current ILAR criteria for systemic juvenile idiopathic arthritis: A single-centre experience
- Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
- Phosphomevalonate Kinase Controls beta-Catenin Signaling via the Metabolite 5-Diphosphomevalonate
- Phosphomevalonate Kinase Controls β-Catenin Signaling via the Metabolite 5-Diphosphomevalonate
- Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases
- Practical Approach to Diagnosis and Management of IL-1-Mediated Autoinflammatory Diseases (CAPS, TRAPS, MKD, and DIRA)
- Real-Life Indications of Interleukin-1 Blocking Agents in Hereditary Recurrent Fevers: Data From the JIRcohort and a Literature Review
- Real-world safety and effectiveness of canakinumab in patients with tumour necrosis factor receptor-associated periodic syndrome or hyperimmunoglobulinaemia D syndrome: Interim results from post-marketing surveillance in Japan
- Reasons for canakinumab initiation among patients with periodic fever syndromes: a retrospective medical chart review from the United States
- Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes
- Recurrent macrophage activation syndrome due to hyperimmunoglobulin D syndrome: a case-based review
- Reply to 'Paradoxical hidradenitis suppurativa induced by adalimumab biosimilar successfully treated with guselkumab in a patient with psoriasis. Comment on "Paradoxical hidradenitis suppurativa due to anti-interleukin-1 agents for mevalonate ki
- Spectrum of auto-inflammatory diseases in Morocco: a monocentric experience
- Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience
- Successful treatment of refractory mevalonate kinase deficiency with combination therapy targeting TNFalpha and IL1beta
- Systemic autoinflammatory disease, IgA glomerulonephritis and renal cortical necrosis: coincidence or causation?
- The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated period
- The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases
- The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort
- The Clinical Chameleon of Autoinflammatory Diseases in Children
- The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency
- Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review
- Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review
- Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis
- Use of the Auto-inflammatory Disease Activity Index to monitor disease activity in patients with colchicine-resistant Familial Mediterranean Fever, Mevalonate Kinase Deficiency, and TRAPS treated with canakinumab
- Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome
- Uveitis, glaucoma, and cataract with mevalonate kinase deficiency
- Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report
- What is confirmed in the treatment of autoinflammatory fever diseases?