Frontiers in Immunology (Nov 2024)
Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations
- 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
Affiliations
- Lilla Lengvári
- Paediatric Centre, Semmelweis University, Budapest, Hungary
- Kata Takács
- Paediatric Centre, Semmelweis University, Budapest, Hungary
- Anna Lengyel
- Paediatric Centre, Semmelweis University, Budapest, Hungary
- Annamária Pálinkás
- Paediatric Centre, Semmelweis University, Budapest, Hungary
- Carine Helena Wouters
- Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium
- Isabelle Koné-Paut
- Department of Pediatric Rheumatology, National Reference Centre for Rare Autoinflammatory Diseases and Inflammatory Amyloidosis, Centre Hospitalier Universitaire de Bicêtre, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France
- Jasmin Kuemmerle-Deschner
- Pediatric Rheumatology, Department of Pediatrics and Autoinflammation Reference Center, University Hospital Tuebingen, Tuebingen, Germany
- Jerold Jeyaratnam
- Division of Woman and Infant, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, Netherlands
- Jordi Anton
- Department of Pediatric Rheumatology, Hospital Sant Joan de De´ u, University of Barcelona, Barcelona, Spain
- Helen Jane Lachmann
- National Amyloidosis Centre, University College London, and Royal Free Hospital London NHS Foundation Trust, London, United Kingdom
- Marco Gattorno
- UOC Reumatologia e Malattie Autoinfiammatorie, IRCCS Istituto G. Gaslini, Genoa, Italy
- Michael Hofer
- Pediatric Rheumatology and Immunology, Hoˆ pital Riviera-Chablais, Rennaz, Switzerland
- Nataša Toplak
- 0Department of Allergology, Rheumatology and Clinical Immunology, University Children’s Hospital Ljubljana, University Medical Centre Ljubljana, Ljubljana, Slovenia
- Peter Weiser
- 1Division of Rheumatology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, United States
- Tilmann Kallinich
- 2Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charite´ – Universitätsmedizin Berlin, Berlin, Germany
- Seza Ozen
- 3Department of Pediatric Rheumatology, Hacettepe University, Ankara, Türkiye
- Véronique Hentgen
- 4French Reference Center for AutoInflammatory Diseases and Amyloidosis, Department of Pediatrics, Versailles Hospital, Versailles, France
- Yosef Uziel
- 5Pediatric Rheumatology Unit, Meir Medical Center, Tel Aviv University School of Medicine, Tel Aviv, Israel
- Zsuzsanna Horváth
- Paediatric Centre, Semmelweis University, Budapest, Hungary
- Márton Szabados
- Paediatric Centre, Semmelweis University, Budapest, Hungary
- Paul Brogan
- 6Inflammation & Rheumatology Section, UCL Great Ormond St Institute of Child Health, University College London, London, United Kingdom
- Tamás Constantin
- Paediatric Centre, Semmelweis University, Budapest, Hungary
- Joost Frenkel
- 7Division of Pediatrics, Wilhelmina Children’s Hospital University Medical Center Utrecht, Utrecht, Netherlands
- DOI
- https://doi.org/10.3389/fimmu.2024.1466844
- Journal volume & issue
-
Vol. 15
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
