Lengvári, Lilla;
Takács, Kata;
Lengyel, Anna;
Pálinkás, Annamária;
Wouters, Carine Helena;
Koné-Paut, Isabelle;
Kuemmerle-Deschner, Jasmin;
... Frenkel, Joost; + view all
(2024)
Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.
Front Immunol
, 15
(12)
, Article 1466844. 10.3389/fimmu.2024.1466844.
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Abstract
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the MVK gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines. By describing molecular mechanisms, diagnostic dilemmas, and emerging therapies, this article should serve as a resource for clinicians and researchers, promoting a deeper understanding of MKD and guiding optimal patient care.
| Type: | Article |
|---|---|
| Title: | Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations |
| Location: | Switzerland |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3389/fimmu.2024.1466844 |
| Publisher version: | http://dx.doi.org/10.3389/fimmu.2024.1466844 |
| Language: | English |
| Additional information: | Copyright © 2024 Lengvári, Takács, Lengyel, Pálinkás, Wouters, Koné-Paut, Kuemmerle-Deschner, Jeyaratnam, Anton, Lachmann, Gattorno, Hofer, Toplak, Weiser, Kallinich, Ozen, Hentgen, Uziel, Horváth, Szabados, Brogan, Constantin and Frenkel. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| Keywords: | diagnosis, genetics, guideline, mevalonate kinase deficiency, treatment |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10200861 |
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