A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation
Çişem Yıldız, Deniz Gezgin Yıldırım, Aslı İnci, Leyla Tümer, Filiz Ergın, Emine Nur Sunar Yayla, Pelin Esmeray Şenol, Nihal Karaçayır, Ödül Eğritaş Gürkan, İlyas Okur, Fatih Süheyl Ezgü, Sevcan A. Bakkaloğlu
Topics & Concepts
MedicineMevalonic acidCompound heterozygosityImmunoglobulin DRashImmunologyBiologyInternal medicineMutationGeneticsAntibodyGeneBiosynthesisB cellInflammasome and immune disordersCholesterol and Lipid MetabolismLipid metabolism and biosynthesis