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

doi:10.3389/fimmu.2024.1466844

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 SzabadosPaul Brogan, Tamás Constantin^*, Joost Frenkel

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

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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.

Original language	English
Article number	1466844
Number of pages	15
Journal	Frontiers in Immunology
Volume	15
DOIs	https://doi.org/10.3389/fimmu.2024.1466844
Publication status	Published - 12 Nov 2024

Keywords

diagnosis
genetics
guideline
mevalonate kinase deficiency
treatment

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10.3389/fimmu.2024.1466844Licence: CC BY

fimmu-15-1466844Final published version, 397 KBLicence: CC BY

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Lengvári, L., Takács, K., Lengyel, A., Pálinkás, A., Wouters, C. H., Koné-Paut, I., Kuemmerle-Deschner, J., Jeyaratnam, J., Anton, J., Lachmann, H. J., Gattorno, M., Hofer, M., Toplak, N., Weiser, P., Kallinich, T., Ozen, S., Hentgen, V., Uziel, Y., Horváth, Z., ... Frenkel, J. (2024). Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations. Frontiers in Immunology, 15, Article 1466844. https://doi.org/10.3389/fimmu.2024.1466844

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title = "Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations",

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",

author = "Lilla Lengv{\'a}ri and Kata Tak{\'a}cs and Anna Lengyel and Annam{\'a}ria P{\'a}link{\'a}s and Wouters, {Carine Helena} and Isabelle Kon{\'e}-Paut and Jasmin Kuemmerle-Deschner and Jerold Jeyaratnam and Jordi Anton and Lachmann, {Helen Jane} and Marco Gattorno and Michael Hofer and Nata{\v s}a Toplak and Peter Weiser and Tilmann Kallinich and Seza Ozen and V{\'e}ronique Hentgen and Yosef Uziel and Zsuzsanna Horv{\'a}th and M{\'a}rton Szabados and Paul Brogan and Tam{\'a}s Constantin and Joost Frenkel",

note = "Publisher Copyright: Copyright {\textcopyright} 2024 Lengv{\'a}ri, Tak{\'a}cs, Lengyel, P{\'a}link{\'a}s, Wouters, Kon{\'e}-Paut, Kuemmerle-Deschner, Jeyaratnam, Anton, Lachmann, Gattorno, Hofer, Toplak, Weiser, Kallinich, Ozen, Hentgen, Uziel, Horv{\'a}th, Szabados, Brogan, Constantin and Frenkel.",

year = "2024",

month = nov,

day = "12",

doi = "10.3389/fimmu.2024.1466844",

language = "English",

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Lengvári, L, Takács, K, Lengyel, A, Pálinkás, A, Wouters, CH, Koné-Paut, I, Kuemmerle-Deschner, J, Jeyaratnam, J, Anton, J, Lachmann, HJ, Gattorno, M, Hofer, M, Toplak, N, Weiser, P, Kallinich, T, Ozen, S, Hentgen, V, Uziel, Y, Horváth, Z, Szabados, M, Brogan, P, Constantin, T & Frenkel, J 2024, 'Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations', Frontiers in Immunology, vol. 15, 1466844. https://doi.org/10.3389/fimmu.2024.1466844

TY - JOUR

T1 - Mevalonate kinase deficiency

T2 - an updated clinical overview and revision of the SHARE recommendations

AU - Lengvári, Lilla

AU - Takács, Kata

AU - Lengyel, Anna

AU - Pálinkás, Annamária

AU - Wouters, Carine Helena

AU - Koné-Paut, Isabelle

AU - Kuemmerle-Deschner, Jasmin

AU - Jeyaratnam, Jerold

AU - Anton, Jordi

AU - Lachmann, Helen Jane

AU - Gattorno, Marco

AU - Hofer, Michael

AU - Toplak, Nataša

AU - Weiser, Peter

AU - Kallinich, Tilmann

AU - Ozen, Seza

AU - Hentgen, Véronique

AU - Uziel, Yosef

AU - Horváth, Zsuzsanna

AU - Szabados, Márton

AU - Brogan, Paul

AU - Constantin, Tamás

AU - Frenkel, Joost

N1 - Publisher Copyright: Copyright © 2024 Lengvári, Takács, Lengyel, Pálinkás, Wouters, Koné-Paut, Kuemmerle-Deschner, Jeyaratnam, Anton, Lachmann, Gattorno, Hofer, Toplak, Weiser, Kallinich, Ozen, Hentgen, Uziel, Horváth, Szabados, Brogan, Constantin and Frenkel.

PY - 2024/11/12

Y1 - 2024/11/12

N2 - 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.

AB - 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.

KW - diagnosis

KW - genetics

KW - guideline

KW - mevalonate kinase deficiency

KW - treatment

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U2 - 10.3389/fimmu.2024.1466844

DO - 10.3389/fimmu.2024.1466844

M3 - Review article

C2 - 39600705

AN - SCOPUS:85210932886

SN - 1664-3224

VL - 15

JO - Frontiers in Immunology

JF - Frontiers in Immunology

M1 - 1466844

ER -

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

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Keywords

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