About 265 results

ALLMedicine™ Mevalonate Kinase Deficiency Center

Research & Reviews  87 results

Detection of a rare variant in PSTPIP1 through three generations in a family with an in...
Rheumatology (Oxford, England); Özkılınç Önen M, Onat UI et. al.

Jan 25th, 2023 - The presence of familial Mediterranean fever (FMF) cases without MEFV pathogenic variants led us to search for other genes' involvement in the disease development. Here, we describe the presence of genetic heterogeneity in a three-generation famil...

Cardiovascular manifestations of monogenic periodic fever syndromes.
Clinical Rheumatology; Sönmez HE, Bayındır Y et. al.

Jan 10th, 2023 - Periodic fever syndromes (PFS) are a group of autoinflammatory diseases characterized by repeated febrile episodes and systemic inflammation. The most common monogenic periodic fever syndromes are familial Mediterranean fever, mevalonate kinase de...

Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presentin...
Rheumatology (Oxford, England); Delplanque M, Fayand A et. al.

Dec 29th, 2022 - Autoinflammatory diseases (AIDs) are defined as disorders of innate immunity. They were initially defined in contrast to autoimmune diseases because of the lack of involvement of the adaptive immune system and circulating autoantibodies. The four ...

Interstitial lung disease in autoinflammatory disease in childhood: A systematic review...
Pediatric Pulmonology; Nayir Buyuksahin H, Basaran O et. al.

Nov 1st, 2022 - The lung is one of the target organs in the systemic involvement of autoinflammatory disease (AID), and interstitial lung disease (ILD) is the primary phenotype of lung involvement in AID. In this review, we aimed to conduct a systematic review of...

Ischemic stroke is a potential complication of uncontrolled inflammation in mevalonate ...
Journal of Stroke and Cerebrovascular Diseases : the Offi... Blais J, Bonneville-Roussy D et. al.

Oct 16th, 2022 - Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disease characterized by recurrent systemic inflammation attacks. Despite interconnections with inflammation, thrombosis is rare or underreported in MKD. Our goal is to ...

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Guidelines  1 results

Consensus protocols for the diagnosis and management of the hereditary autoinflammatory...
Pediatric Rheumatology Online Journal; Hansmann S, Lainka E et. al.

Feb 19th, 2020 - Rare autoinflammatory diseases (AIDs) including Cryopyrin-Associated Periodic Syndrome (CAPS), Tumor Necrosis Receptor-Associated Periodic Syndrome (TRAPS) and Mevalonate Kinase Deficiency Syndrome (MKD)/ Hyper-IgD Syndrome (HIDS) are genetically ...

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Drugs  2 results see all →

Clinicaltrials.gov  5 results

Quality of Life in Patients With Auto-inflammatory Diseases

Jul 2nd, 2020 - Recent understanding of the physiopathological mechanisms that underpin autoinflammatory diseases (AIDs) allowed a revolution in the therapeutic management of these patients, particularly through the use of biotherapies. However new treatments nee...

Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

May 24th, 2019 - Participants are admitted to the clinical research center for up to a week per visit. Additional visits at least yearly encouraged. During the week we measure such things as cholesterol absorption, sterol and bile acid synthesis, mevalonate and me...

B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency

Jun 18th, 2018 - The hyper IgD syndrome (HIDS) is an inflammatory disease caused by mevalonate kinase deficiency. There is no cure, and available treatments of HIDS febrile episodes have shown limited clinical efficacy. The development of effective interventions f...

Study of Efficacy and Safety of Canakinumab in Patients With Hereditary Periodic Fevers

May 17th, 2018 - This study consists of 3 randomized cohorts (one per condition of colchicine resistant/intolerant Familial Mediterranean Fever (crFMF), Hyper Immunoglobulin D Syndrome (also known as mevalonate kinase deficiency (HIDS/MKD), and Tumor Necrosis Fact...


Jan 31st, 2013 - Background: Genetics is suggested to play a critical role in the development of Behçet's disease (BD). Shared phenotypic features requires an approach to the differential diagnosis from periodic febrile syndromes particularly from mevalonate kinas...

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News  11 results

Increased body temperature triggers flares in rare autoinflammatory disorder
Will Pass

Oct 10th, 2022 - Increased core body temperature is a likely trigger of disease flares in the rare genetic autoinflammatory disorder mevalonate kinase deficiency (MKD), based on a study involving new mouse models. The study also uncovered potential strategies for.

Body Temperature Triggers Flares in Autoinflammatory Disorder

Oct 10th, 2022 - Increased core body temperature is a likely trigger of disease flares in the rare genetic autoinflammatory disorder mevalonate kinase deficiency (MKD), based on a study involving new mouse models. The study also uncovered potential strategies for ...

FDA Approves Canakinumab (Ilaris), First Drug for Adult-Onset Still's Disease

Jun 19th, 2020 - The Food and Drug Administration has expanded the indications for canakinumab (Ilaris) to include all patients with active Still's disease older than 2 years, adding adult-onset Still's disease (AOSD) to a previous approval for juvenile-onset Stil...

FDA makes Ilaris the first approved treatment for adult-onset Still’s disease
Christopher Palmer

Jun 18th, 2020 - The Food and Drug Administration has expanded the indications for canakinumab (Ilaris) to include all patients with active Still’s disease older than 2 years, adding adult-onset Still’s disease (AOSD) to a previous approval for juvenile-onset Stil.

NHS England Funds 'Life-Changing' Treatment for Periodic Fever Syndromes

Mar 4th, 2020 - NHS England is funding a 'life-changing treatment' for certain individuals with periodic fever syndromes (PFS), a group of rare conditions characterised by fever, joint pains and swelling. Patients with PFS often experience inflammatory 'flares' i...

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