Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated.

Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort.

Pyrin Inflammasome Activation Triggers an IL-18-Driven IFNγ Response in Mevalonate Kinase Deficiency.

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.

A Diagnostic Challenge: Recurrent Uveitis Leading to the Diagnosis of Hyper-IgD Syndrome in a 28-Year-Old Patient.

Targeting cytokine pathways: the role of biologics in autoinflammatory disorders.

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.

Mevalonate kinase deficiency diagnosed in late adolescence presenting with macrophage activation syndrome.

Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report.

Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress.

Case Report: Mevalonate kinase deficiency: an underdiagnosed cause of ischemic stroke-characterization of a novel genetic variant.

Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.

Mevalonate kinase deficiency: Neuropathologic findings in an autopsy brain.

Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.

Canakinumab treatment patterns in sJIA, FMF, TRAPS, and MKD/HIDS: real-world insights from a Belgian non-interventional study.

Hyperimmunoglobulinemia D Syndrome Masquerading as Familial Mediterranean Fever, Hidradenitis Suppurativa, and Crohn's Disease: A Case Report.

The challenge of Mevalonate Kinase Deficiency as one of the causes of nonimmune hydrops fetalis.

Unmasking Mevalonate Kinase Deficiency in a Neonate with Brain Abscess.

Human γδ T Cell Function Is Impaired Upon Mevalonate Pathway Inhibition.

Serum interleukin-18 levels are specifically elevated in auto-inflammatory diseases involving the pyrin inflammasome: A study on 516 patients.

[Monogenic autoinflammatory uveitis].

Intrauterine intestinal obstruction in a preterm infant with severe mevalonate kinase deficiency - a case report.

Off-Label Use of Anakinra in Inflammatory Conditions in Neonates and Infants Up to 3 Months of Age: A Case Series and a Review of the Literature.

Long-Term Safety and Effectiveness of Canakinumab in Patients with MKD/HIDS: Interim Analysis of the RELIANCE Registry.

The first proteomics analysis of tonsils in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA).

Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.

Case Report of Unusual Manifestation of Mevalonate Kinase Deficiency Syndrome Mimicking Juvenile Idiopathic Arthritis With Systemic Onset.

Complex MEFV and MVK Variations in a Syrian Child: Implications for Clinical Phenotypes and Treatment Response-A Case Report.

Hypergammaglobulinemia D and Periodic Fever Syndrome (HIDS) in a 3-year-old Patient from Puerto Rico.

Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings.

Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches.

Systemic autoinflammatory disease, IgA glomerulonephritis and renal cortical necrosis: coincidence or causation?

Glucose-oxygen deprivation constrains HMGCR function and Rac1 prenylation and activates the NLRP3 inflammasome in human monocytes.

Experience on the long-term use of canakinumab in mevalonate kinase deficiency: A case series.

Molecular and cellular consequences of mevalonate kinase deficiency.

Canakinumab treatment real world evidence in 3 monogenic periodic fever syndromes in 2009-2022: an interim analysis using the French JIR cohort database.

Successful treatment of refractory mevalonate kinase deficiency with combination therapy targeting TNFα and IL1β.

Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.

Practical Approach to Diagnosis and Management of IL-1-Mediated Autoinflammatory Diseases (CAPS, TRAPS, MKD, and DIRA).

Long-term safety and effectiveness of canakinumab in patients with monogenic autoinflammatory diseases: results from the interim analysis of the RELIANCE registry.

[Mevalonate kinase deficiency].

Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review.

Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome.

Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes.

A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype.

Autoinflammatory Recurrent Pericarditis Associated with a New NLRP12 Mutation in a Male Adolescent.

Efficacy of Anakinra Treatment in two Moroccan Patients With Mevalonate Kinase Deficiency.

Lipids in inflammasome activation and autoinflammatory disorders.

A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.

Clinical presentation and genetic variants in patients with autoinflammatory diseases: results from the German GARROD registry.

A case of neonatal sweet syndrome associated with mevalonate kinase deficiency.

Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.

Autoinflammatory Diseases/Periodic Fevers.

Long-term efficacy of canakinumab in hyperimmunoglobulin D syndrome.

Joint manifestations revealing inborn metabolic diseases in adults: a narrative review.

Kidney Involvement in Autoinflammatory Diseases.

Hyper-IgD Syndrome: Caused by Deficiency on Ras Prenylation and Trained Immunity?

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.

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 successfully treated with the addition of ustekinumab'.

The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort.

Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis.

Paradoxical hidradenitis suppurativa due to anti-interleukin-1 agents for mevalonate kinase deficiency successfully treated with the addition of ustekinumab.

Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.

Spectrum of auto-inflammatory diseases in Morocco: a monocentric experience.

Current Evidence on Vaccinations in Pediatric and Adult Patients with Systemic Autoinflammatory Diseases.

Isolated neurological presentations of mevalonate kinase deficiency.

Cardiovascular manifestations of monogenic periodic fever syndromes.

Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.

B Cells at the Cross-Roads of Autoimmune Diseases and Auto-Inflammatory Syndromes.

A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.

Disseminated superficial actinic porokeratosis following hydroxyurea treatment: A case report.

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.

Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency.

Recurrent macrophage activation syndrome due to hyperimmunoglobulin D syndrome: a case-based review.

AA amyloidosis presenting with acute kidney injury, curable or not?

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.

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.

The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency.

The Clinical Chameleon of Autoinflammatory Diseases in Children.

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.

Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa - A New Syndromic Form of HS? A Report of Two Cases.

Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review.

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 periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist.

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.

The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.

Cyclic Fevers in Adult Diagnosed As Hyperimmunoglobulin D Syndrome.

Neurological manifestations in mevalonate kinase deficiency: A systematic review.

[Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency].

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.

Fitness to Serve in the Armed Forces and Internal Medicine: A Retrospective Study.

Homozygous V377I mutation causing mevalonate kinase.

Differentiating children with familial Mediterranean fever from other recurrent fever syndromes: The utility of new Eurofever/PRINTO classification criteria.

Current treatment options for monogenic periodic fever syndromes - the role of interleukin 1 inhibitors.

Uveitis, glaucoma, and cataract with mevalonate kinase deficiency.

[Analysis of clinical characteristics of 35 inflammasomopathies cases].

Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation.

[What is confirmed in the treatment of autoinflammatory fever diseases?].

Real-Life Indications of Interleukin-1 Blocking Agents in Hereditary Recurrent Fevers: Data From the JIRcohort and a Literature Review.

Performance of recent PRINTO criteria versus current ILAR criteria for systemic juvenile idiopathic arthritis: A single-centre experience.

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.

[Autoinflammation-differences between children and adults].

Mevalonate Kinase Deficiency and Squalene Synthase Inhibitor (TAK-475): The Balance to Extinguish the Inflammation.

Canakinumab improves patient-reported outcomes in children and adults with autoinflammatory recurrent fever syndromes: results from the CLUSTER trial.

Long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency: results from the randomised Phase 3 CLUSTER trial.

Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency.

Expanding Contributions of Monogenic Very Early Onset Inflammatory Bowel Disease.

Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.

Reasons for canakinumab initiation among patients with periodic fever syndromes: a retrospective medical chart review from the United States.

Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.

Mevalonate Kinase Deficiency: Diagnostic and Management Challenges.

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.

Corrigendum to: Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.

Mevalonic Aciduria Associated With Intrahepatic Bile Duct Paucity.

IL-1 Inhibitors in the Treatment of Monogenic Periodic Fever Syndromes: From the Past to the Future Perspectives.

Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis.

Long-Term Follow-Up and Optimization of Interleukin-1 Inhibitors in the Management of Monogenic Autoinflammatory Diseases: Real-Life Data from the JIR Cohort.

Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.

Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.

Incomplete mitophagy in the mevalonate kinase-deficient Saccharomyces cerevisiae and its relation to the MKD-related autoinflammatory disease in humans.

Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.

Fast diagnostic test for familial Mediterranean fever based on a kinase inhibitor.

Burden of illness in hereditary periodic fevers: a multinational observational patient diary study.

The systemic autoinflammatory disorders for dermatologists. Part 1: overview.

The systemic autoinflammatory disorders for dermatologists. Part 2: disease examples.

Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.

Growth Parameters of Turkish Children With an Autoinflammatory Disease Before and After Canakinumab Treatment.

Systematic literature review of efficacy/effectiveness and safety of current therapies for the treatment of cryopyrin-associated periodic syndrome, hyperimmunoglobulin D syndrome and tumour necrosis factor receptor-associated periodic syndrome.

Overview of the rarest causes of fever in newborns: handy hints for the neonatologist.

Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide.

Cholesterol metabolism drives regulatory B cell IL-10 through provision of geranylgeranyl pyrophosphate.

Phenotype variability of autoinflammatory disorders in the pediatric patient: A pictorial overview.

How to handle the main drugs to treat autoinflammatory disorders and how we treat common autoinflammatory diseases.

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant).

Management of Mevalonate Kinase Deficiency: A Pediatric Perspective.

Systemic autoinflammatory diseases: Clinical state of the art.

Canakinumab in colchicine resistant familial Mediterranean fever and other pediatric rheumatic diseases.

Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome.

Cutaneous manifestations in mevalonate kinase deficient patients treated with canakinumab.

AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.

Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database.

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.

Autoinflammatory diseases in childhood, part 1: monogenic syndromes.

Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings.

Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab.

Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome.

Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG).

Mevalonic aciduria: Does stem cell transplant fully cure disease?

Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.

Performance of the new 'Eurofever/PRINTO classification criteria' in FMF patients.

PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.

Mevalonate kinase deficiency masked by cytomegalovirus infection and obscure liver disease.

A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness.

When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease.

Immunometabolic function of cholesterol in cardiovascular disease and beyond.

Classification criteria for autoinflammatory recurrent fevers.

Monocyte Production of IFN-γ Is Interleukin-12 Dependent in a Model of Mevalonate Kinase Deficiency.

Unveiling the Efficacy, Safety, and Tolerability of Anti-Interleukin-1 Treatment in Monogenic and Multifactorial Autoinflammatory Diseases.

State of care for patients with systemic autoinflammatory diseases - Results of a tertiary care survey.

Hyperimmunoglobulinemia D syndrome with recurrent perianal abscess successfully treated with canakinumab.

Lack of protein prenylation promotes NLRP3 inflammasome assembly in human monocytes.

Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.

Autoinflammatory diseases: State of the art.

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome - PFAPA syndrome.

Evidence for a role of geranylgeranylation in renal angiomyolipoma and renal epithelioid angiomyolipoma.

Canakinumab for the treatment of hyperimmunoglobulin D syndrome.

Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?

Vasculitis in Systemic Autoinflammatory Diseases.

What's new in autoinflammation?

Update on the epidemiology and disease outcome of Familial Mediterranean fever.

A rare cause of AA amyloidosis and end-stage kidney failure: Answers.

Dosage Considerations for Canakinumab in Children With Periodic Fever Syndromes.

Periodic fevers and other autoinflammatory diseases.

Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms.

The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.

Targeting cytokines to treat autoinflammatory diseases.

An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.

Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.

The patient journey to diagnosis and treatment of autoinflammatory diseases.

Hyper-IgD syndrome in a patient with IgA immunodeficiency.

In silico validation of the Autoinflammatory Disease Damage Index.

Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition.

Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement.

An Update on Autoinflammatory Diseases: Inflammasomopathies.

[Periodic fever syndromes].

Neuronal Dysfunction Associated with Cholesterol Deregulation.

Periodic fever syndromes.

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

Prolonged treatment with mevalonolactone induces oxidative stress response with reactive oxygen species production, mitochondrial depolarization and inflammation in human glioblastoma U-87 MG cells.

Hyper-immunoglobulin D syndrome with novel mutations in an afebrile infant.

The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey.

[Clinical overview of auto-inflammatory diseases].