Results 161 to 170 of about 29,180 (194)

Treatment advances in mevalonate kinase deficiency: A comprehensive review

Eurasian Journal of Medicine and Oncology
Mevalonate kinase deficiency (MKD) is a rare auto-inflammatory disease caused by mutations in the mevalonate kinase gene. This leads to problems with isoprenoid production and cell function. Individuals with MKD usually experience repeated fever episodes,
Chenxi Li, Xilong Tang, Xiangyuan Chen, Ping Zeng   +3 more
semanticscholar   +1 more source

Mevalonate kinase deficiency: Neuropathologic findings in an autopsy brain.

Journal of Neuropathology & Experimental Neurology
Alexander Lokken, Eric Goold, Jessica M. Comstock, Changhong Xing   +3 more
semanticscholar   +3 more sources

Unmasking Mevalonate Kinase Deficiency in a Neonate with Brain Abscess

Indian Journal of Pediatrics
Anurupa Popuri, Nikhil Rajvanshi, Nagaraja Venigalla   +2 more
semanticscholar   +3 more sources

Mevalonate Kinase Deficiency and Autoinflammation

New England Journal of Medicine, 2007
To the Editor: The Perspective article about mevalonate kinase deficiency and autoinflammatory disorders by Haas and Hoffmann (June 28 issue)1 accompanies the Brief Report by Neven et al.2 The Perspective describes the disease spectrum of human mevalonate kinase deficiency, which includes unexplained periodic episodes of fever and inflammation, and ...
Elizabeth J. Hager, K. Michael Gibson
openaire   +1 more source

PO:19:286 | Genetic testing reveals an unexpected case of mevalonate kinase deficiency in a 37-year-old patient with AA renal amyloidosis and good response to colchicine

Reumatismo
Mevalonate kinase deficiency (MKD) is a rare genetic autoinflammatory disease usually diagnosed in pediatric age.   Case presentation. A 37-year-old male, born in Pakistan from consanguineous parents was first evaluated in March 2024 at the Nephrology ...
Società Italiana Di Reumatologia
semanticscholar   +1 more source

Ischemic stroke is a potential complication of uncontrolled inflammation in mevalonate kinase deficiency - A case report.

Journal of Stroke & Cerebrovascular Diseases, 2022
OBJECTIVES 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
J. Blais, Didier Bonneville-Roussy, H. Elfassy, S. Lanthier   +3 more
semanticscholar   +1 more source

Mevalonate Kinase Deficiency: A Survey of 50 Patients

Pediatrics, 2011
OBJECTIVE: The goal of this study was to describe the spectrum of clinical signs of mevalonate kinase deficiency (MKD). METHODS: This was a retrospective French and Belgian study of patients identified on the basis of MKD gene mutations.
Brigitte, Bader-Meunier, Benoit, Florkin, Jean, Sibilia, Cécile, Acquaviva, Eric, Hachulla, Gilles, Grateau, Olivier, Richer, Claire Michèle, Farber, Michel, Fischbach, Véronique, Hentgen, Patrick, Jego, Cécile, Laroche, Bénédicte, Neven, Thierry, Lequerré, Alexis, Mathian, Isabelle, Pellier, Isabelle, Touitou, Daniel, Rabier, Anne-Marie, Prieur, Laurence, Cuisset, Pierre, Quartier   +20 more
openaire   +2 more sources

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

Rheumatology, 2021
OBJECTIVES To evaluate the long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency (MKD) during the open label extension (weeks 41-113) of the randomised controlled CLUSTER trial.
Jerold Jeyaratnam, A. Simon, I. Calvo, T. Constantin, A. Shcherbina, M. Hofer, M. Gattorno, A. Martini, B. Bader-Meunier, B. Vastert, J. Levy, E. Dekker, F. De Benedetti, J. Frenkel   +13 more
semanticscholar   +1 more source

[Mevalonate kinase deficiency].

La Revue du praticien
MEVALONATE KINASE DEFICIENCY. Mevalonate kinase deficiency is a rare, autosomal recessive, auto- inflammatory disease, linked to mutations in the gene MVK, resulting in the activation of pyrin inflammasome and hypersecretion of interleukin-1β (IL-1β).
R H, Weng, J, Yang, Y H, Wang
openaire   +3 more sources

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

Journal of Allergy and Clinical Immunology
BACKGROUND Mevalonate kinase deficiency (MKD) is a rare monogenic autoinflammatory disorder characterized by recurrent fever episodes driven by dysregulated IL-1β secretion.
Niels S. van Heusden, Isa Cuijpers, Nils W. F. Meijer, D. Pieren, A. Markovska, Cem Gabay, C. Girard, I. Koné-Paut, B. Vastert, Dörte Hamann, J. Jans, E. Van Nieuwenhove, J. Frenkel, Marianne Boes   +13 more
semanticscholar   +1 more source