Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases

In the isoprenoid biosynthesis pathway, mevalonate is phosphorylated in 2 subsequent enzyme steps by MVK and PMVK to generate mevalonate pyrophosphate that is further metabolized to produce sterol and nonsterol isoprenoids. Biallelic pathogenic variants in MVK result in the autoinflammatory metaboli...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2023-10, Vol.152 (4), p.1025-1031.e2
Hauptverfasser:	Berner, Jakob, van de Wetering, Cheryl, Jimenez Heredia, Raul, Rashkova, Christina, Ferdinandusse, Sacha, Koster, Janet, Weiss, Johannes G., Frohne, Alexandra, Giuliani, Sarah, Waterham, Hans R., Castanon, Irinka, Brunner, Jürgen, Boztug, Kaan
Format:	Artikel
Sprache:	eng
Schlagworte:	autoinflammation Brief Report genetics Inborn errors of immunity isoprenoid biosynthesis pathway PMVK
Online-Zugang:	Volltext
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