| Title: | Mevalonate kinase deficiency : an updated clinical overview and revision of the SHARE recommendations |
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| Authors: | ID Lengvári, Lilla (Author)
ID Takács, Kata (Author)
ID Lengyel, Anna (Author)
ID Pálinkás, Annamária (Author)
ID Wouters, Carine (Author)
ID Kone-Paut, Isabelle (Author)
ID Kuemmerle-Deschner, Jasmin B (Author)
ID Jeyaratnam, Jerold (Author)
ID Anton, Jordi (Author)
ID Lachmann, Helen Jane (Author)
ID Toplak, Nataša (Author), et al. |
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| Files: |  PDF - Presentation file, download (396,78 KB)
MD5: 53D6C240F87460F0F157DC50233EE8DE
 URL - Source URL, visit https://doi.org/10.3389/fimmu.2024.1466844
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| Language: | English |
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| Typology: | 1.02 - Review Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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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. |
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| Keywords: | mevalonate kinase deficiency, diagnosis, genetics, treatment, guidelines |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2024 |
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| Number of pages: | str. 1-15 |
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| Numbering: | Vol. 15, [article no.] ǂ1466844 |
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| PID: | 20.500.12556/DiRROS-27843  |
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| UDC: | 616-097 |
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| ISSN on article: | 1664-3224 |
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| DOI: | 10.3389/fimmu.2024.1466844 |
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| COBISS.SI-ID: | 227695107 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 28. 2. 2025;
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| Publication date in DiRROS: | 26.02.2026 |
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| Views: | 119 |
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| Downloads: | 46 |
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