… genes and unexpected genotype–phenotype correlations. The … Additionally, a case of
mevalonate kinase deficiency (MKD) … heterozygosity for two missense mutations in the MVK gene. …

… mevalonate kinase deficiency (MKD, also known as hyper IgD syndrome), all of which result
from a spectrum of … monoallelic germline mutations in genes encoding mevalonate pathway …

… (NLRP3-AIDs11) are the spectrum of rare autosomal dominant … Mevalonate kinase deficiency
(MKD) caused by autosomal recessive loss-of-function mutations in the mevalonate kinase …

… a spectrum of diseases related to NLRP3 mutations (NRLP3-associated autoinflammatory
disease or NLRP3-AID), mevalonate kinase deficiency (… poor genotype-phenotype correlation; …

… with emerging genotype-phenotype correlation and validate … spectrum of COQ7-related
primary CoQ 10 deficiency, and … of both the leaky and severe mutations, possibly due to an …

… Mediterranean fever (FMF) and mevalonate kinase deficiency [also known as … Mutation
Database and ClinVar are very good resources for obtaining the genotype-phenotype correlation…

… MVK deficiency presents on a spectrum of severity, with … of patients with mevalonate kinase
deficiency and HIDS, which … how a genetic mutation in the mevalonate kinase (MVK) results …

… genotype–phenotype correlation can be used to define where patients fall on the CAPS disease
spectrum … mutations in the MVK gene encoding mevalonate kinase 25,26 . It is a disease …

… from comorbid HS and mevalonate kinase deficiency (MKD) … clinical manifestation,
genotype-phenotype correlations are difficult … Of note, several inactivating mutations have also …

… The autoinflammatory diseases have a large spectrum with … fevers: FMF, mevalonate kinase
deficiency or hyper IgD … two clearly pathogenic mutations may be due to intronic mutations, …