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. 2024 Nov 12:15:1466844.
doi: 10.3389/fimmu.2024.1466844. eCollection 2024.

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

Lilla Lengvári  1 , Kata Takács  1 , Anna Lengyel  1 , Annamária Pálinkás  1 , Carine Helena Wouters  2 , Isabelle Koné-Paut  3 , Jasmin Kuemmerle-Deschner  4 , Jerold Jeyaratnam  5 , Jordi Anton  6 , Helen Jane Lachmann  7 , Marco Gattorno  8 , Michael Hofer  9 , Nataša Toplak  10 , Peter Weiser  11 , Tilmann Kallinich  12 , Seza Ozen  13 , Véronique Hentgen  14 , Yosef Uziel  15 , Zsuzsanna Horváth  1 , Márton Szabados  1 , Paul Brogan #  16 , Tamás Constantin #  1 , Joost Frenkel #  17
Affiliations

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

Lilla Lengvári et al. Front Immunol. .

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.

Keywords: diagnosis; genetics; guideline; mevalonate kinase deficiency; treatment.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

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