Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report

• Päätekijät: Ebun Omoyinmi (Tekijä), Dorota Rowczenio (Tekijä), Neil Sebire (Tekijä), Paul A. Brogan (Tekijä), Despina Eleftheriou (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2021-11-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Abstract Background Mevalonate kinase deficiency (MKD) is a rare autoinflammatory condition caused by biallelic loss-of-function (LOF) mutations in mevalonate kinase (MVK) gene encoding the enzyme mevalonate kinase. Patients with MKD display a variety of non-specific clinical manifestations, which c...