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Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.
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. Lengvári L, et al. Front Immunol. 2024 Nov 12;15:1466844. doi: 10.3389/fimmu.2024.1466844. eCollection 2024. Front Immunol. 2024. PMID: 39600705 Free PMC article.
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the MVK gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. ...
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the MVK gene, disruptin …
Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.
Blicharz L, Czuwara J, Rudnicka L, Torrelo A. Blicharz L, et al. Clin Rev Allergy Immunol. 2023 Dec;65(3):377-402. doi: 10.1007/s12016-023-08971-3. Epub 2023 Dec 16. Clin Rev Allergy Immunol. 2023. PMID: 38103162 Free PMC article. Review.
Originally, autoinflammatory keratinization diseases were attributed to pathogenic variants of CARD14 (generalized pustular psoriasis with concomitant psoriasis vulgaris, palmoplantar pustulosis, type V pityriasis rubra pilaris), IL36RN (generalized pustular psoriasis without con …
Originally, autoinflammatory keratinization diseases were attributed to pathogenic variants of CARD14 (generalized pustular psoriasis with c …
Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.
Saito S, Saito Y, Sato S, Aoki S, Fujita H, Ito Y, Ono N, Funakoshi T, Kawai T, Suzuki H, Sasaki T, Tanaka T, Inoie M, Hata K, Kataoka K, Kosaki K, Amagai M, Nakabayashi K, Kubo A. Saito S, et al. Am J Hum Genet. 2024 May 2;111(5):896-912. doi: 10.1016/j.ajhg.2024.03.017. Epub 2024 Apr 22. Am J Hum Genet. 2024. PMID: 38653249 Free PMC article.
Previous studies showed that genetic alterations in MVK, PMVK, MVD, or FDPS-genes in the mevalonate pathway-cause hereditary porokeratosis, with skin lesions harboring germline and lesion-specific somatic variants on opposite alleles. ...
Previous studies showed that genetic alterations in MVK, PMVK, MVD, or FDPS-genes in the mevalonate pathway-cause hereditary porokera …
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.
Guan C, Wang W, Zhou Q, Sun J, Liu L, Liu L, Sun B, Hou J, Wang X. Guan C, et al. Pediatr Rheumatol Online J. 2025 Jul 27;23(1):78. doi: 10.1186/s12969-025-01131-1. Pediatr Rheumatol Online J. 2025. PMID: 40717084 Free PMC article.
BACKGROUND: Mevalonate kinase deficiency (MKD) is a rare autoinflammatory disease, and mevalonic aciduria (MA) is a severe phenotype of MKD. The present study reports the characteristics of MKD and four novel mutations in the mevalonate kinase (MVK …
BACKGROUND: Mevalonate kinase deficiency (MKD) is a rare autoinflammatory disease, and mevalonic aciduria (MA) is a severe phe …
Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress.
Schulert GS. Schulert GS. Pediatr Rheumatol Online J. 2025 Oct 28;23(1):107. doi: 10.1186/s12969-025-01154-8. Pediatr Rheumatol Online J. 2025. PMID: 41152899 Free PMC article. Review.
This includes new genes and diseases, such as SHARPIN mutations and dominant-negative mutations in OTULIN as causes of disorders of ubiquitination, PMVK mutations as potential causes of a mevalonate kinase deficiency mimic, and ARF1 and REXO2 as causes of interferon …
This includes new genes and diseases, such as SHARPIN mutations and dominant-negative mutations in OTULIN as causes of disorders of ubiquiti …
NK cell dysfunction and interferon-gamma production underlie autoinflammation in mevalonate kinase deficiency.
Munoz MA, Schuster IS, Cremasco J, Masle-Farquhar EN, Skinner OP, Vandeleur ZJ, Biro M, Kempe D, Renton WD, Mehr S, Abell-King C, Tay SS, Chai RC, Ojaimi S, Zaunders JJ, Rao G, Castro-Martinez A, van de Corput L, McCorkindale AN, Goldstein LD, Li X, Wouters F, Kastner DL, Chua I, Fewings NL, McKay FC, Mulders-Manders CM, Brink RA, Tangye SG, Aksentijevich I, Ma CS, van der Hilst J, Frenkel J, Degli-Esposti MA, Rogers MJ. Munoz MA, et al. Immunity. 2026 Jun 9;59(6):1726-1742.e8. doi: 10.1016/j.immuni.2026.03.027. Epub 2026 Apr 30. Immunity. 2026. PMID: 42066777 Free article.
Prenylopathies such as mevalonate kinase deficiency (MKD) are an emerging family of monogenic autoinflammatory diseases with an underlying defect in isoprenoid lipid synthesis and protein prenylation. ...
Prenylopathies such as mevalonate kinase deficiency (MKD) are an emerging family of monogenic autoinflammatory diseases with a …
Homozygous V377I mutation causing mevalonate kinase.
Brito T, Banganho D, Pedrosa C, Farela Neves J. Brito T, et al. BMJ Case Rep. 2022 Apr 6;15(4):e249135. doi: 10.1136/bcr-2022-249135. BMJ Case Rep. 2022. PMID: 35387795 Free PMC article.
Hyperimmunoglobulinaemia D syndrome (HIDS) is a rare autosomal recessive disorder caused by mutations in the mevalonate kinase (MVK) gene, located on chromosome 12. The most common mutation identified in MVK gene so far is V377I. ...The patient was fou …
Hyperimmunoglobulinaemia D syndrome (HIDS) is a rare autosomal recessive disorder caused by mutations in the mevalonate kinase …
Human γδ T Cell Function Is Impaired Upon Mevalonate Pathway Inhibition.
Suen TK, Al B, Ulas T, Reusch N, Bahrar H, Bekkering S, Bhat J, Kabelitz D, Schultze JL, van de Veerdonk FL, van Lennep JR, Riksen NP, Joosten LAB, Netea MG, Placek K. Suen TK, et al. Immunology. 2025 Jul;175(3):300-322. doi: 10.1111/imm.13931. Epub 2025 Apr 22. Immunology. 2025. PMID: 40264329 Free PMC article.
In vitro and in vivo inhibition of mevalonate metabolism with zoledronate, statins, and 6-fluoromevalonate, as well as genetic deficiency of the mevalonate kinase, all resulted in compromised cytokine and cytotoxic molecule production by Vdelta2 T cells. ...
In vitro and in vivo inhibition of mevalonate metabolism with zoledronate, statins, and 6-fluoromevalonate, as well as genetic deficiency of …
Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort.
Kaplan MM, Ekici Tekin Z, Kılıç Könte E, Balık Z, Aydın T, Çağlayan Ş, Arık SD, Kurt T, Yıldız Ç, Karalı Y, Kışla Ekinci M, Çakan M, Doğantan Ş, Kılbaş G, Bozkaya Yücel B, Tanatar A, Şener S, Esen E, Öner N, Köker O, Demir S, Sağ E, Demir Yiğit Y, Baba Ö, Kaya Akça Ü, Taşkın S, Sunar Yayla EN, Yıldız M, Gezgin Yıldırım D, Paç Kısaarslan A, Kasap Demir B, Kalyoncu M, Gürgöze MK, Yüksel S, Kılıç SŞ, Bora B, Sözeri B, Aktay Ayaz N, Bilginer Y, Kasapçopur Ö, Özen S, Çelikel Acar B. Kaplan MM, et al. Semin Arthritis Rheum. 2026 Jun;78:152963. doi: 10.1016/j.semarthrit.2026.152963. Epub 2026 Mar 7. Semin Arthritis Rheum. 2026. PMID: 41833237
OBJECTIVES: This study aimed to comprehensively assess the clinical spectrum, genotype-phenotype correlations, and treatment responses in a large cohort of Turkish pediatric patients with genetically confirmed mevalonate kinase deficiency (MKD). METHODS: This retros …
OBJECTIVES: This study aimed to comprehensively assess the clinical spectrum, genotype-phenotype correlations, and treatment responses in a …
Expanding Contributions of Monogenic Very Early Onset Inflammatory Bowel Disease.
Ouahed J. Ouahed J. Inflamm Bowel Dis. 2021 Oct 20;27(11):1870-1872. doi: 10.1093/ibd/izab145. Inflamm Bowel Dis. 2021. PMID: 34525210 Free PMC article.
The other describes the presentation and management of 10 patients with VEOIBD secondary to damaging mutations in MVK, resulting in mevalonate kinase deficiency. Though most monogenic causes of VEOIBD remain "private," understanding the different categories o …
The other describes the presentation and management of 10 patients with VEOIBD secondary to damaging mutations in MVK, resulting in …
49 results