Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency

• Published in: Frontiers in immunology Vol. 10; p. 1900
• Main Authors: Munoz, Marcia A., Jurczyluk, Julie, Simon, Anna, Hissaria, Pravin, Arts, Rob J. W., Coman, David, Boros, Christina, Mehr, Sam, Rogers, Michael J.
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 14.08.2019
• Subjects: autoinflammation; HIDS; Immunology; mevalonate kinase; prenylation; Rab GTPase; Rap1; autoinflammation; HIDS; Rab GTPase; prenylation; mevalonate kinase; Rap1

The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the gene encoding mevalonate kinase. Deficiency of this enzyme decreases the synthesis of isoprenoid lipids and thus prevents the normal pos...