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

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

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 moda...

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Main Authors: Lilla Lengvári, Kata Takács, Anna Lengyel, Annamária Pálinkás, Carine Helena Wouters, Isabelle Koné-Paut, Jasmin Kuemmerle-Deschner, Jerold Jeyaratnam, Jordi Anton, Helen Jane Lachmann, Marco Gattorno, Michael Hofer, Nataša Toplak, Peter Weiser, Tilmann Kallinich, Seza Ozen, Véronique Hentgen, Yosef Uziel, Zsuzsanna Horváth, Márton Szabados, Paul Brogan, Tamás Constantin, Joost Frenkel
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Immunology
Subjects:
mevalonate kinase deficiency
diagnosis
genetics
treatment
guideline
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1466844/full
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https://www.frontiersin.org/articles/10.3389/fimmu.2024.1466844/full

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