AUTHOR=Lengvári Lilla , Takács Kata , Lengyel Anna , Pálinkás Annamária , Wouters Carine Helena , Koné-Paut Isabelle , Kuemmerle-Deschner Jasmin , Jeyaratnam Jerold , Anton Jordi , Lachmann Helen Jane , Gattorno Marco , Hofer Michael , Toplak Nataša , Weiser Peter , Kallinich Tilmann , Ozen Seza , Hentgen Véronique , Uziel Yosef , Horváth Zsuzsanna , Szabados Márton , Brogan Paul , Constantin Tamás , Frenkel Joost 

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

JOURNAL=Frontiers in Immunology

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2024.1466844

DOI=10.3389/fimmu.2024.1466844

ISSN=1664-3224

ABSTRACT=<p>Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the <italic>MVK</italic> 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.</p>