… D syndrome/mevalonate kinase deficiency (HIDS/MKD) (n=2). A genetic test was performed
in 31 patients (18%), and in 26% of these a mutation responsible for the phenotype was …

… immunometabolism is mevalonate kinase deficiency/hyper IgD syndrome (MKD/HIDS). …
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. …

The term “vasculitis” refers to a heterogeneous group of clinical entities in which blood vessels
are damaged by inflammation-mediated processes. These conditions may be primary or …

… and are secondary to inherited or de novo mutations [3]. … recognized as part of the clinical
spectrum of SAIDs. In this review, … Mevalonate kinase deficiency is the most severe of the two …

… type of mutation (eg, premature termination codon mutation) … symptoms, and genotype/phenotype
correlation) may provide … Mediterranean fever, mevalonate kinase deficiency or, tumor …

… The diagnosis of mevalonate kinase deficiency specifically was previously based on
detection of an increased urine mevalonic acid level, while genetic analysis is now often done …

… genes, and the spectrum of genotype-phenotype correlations. Infantile diarrheal disorders
are grouped into 5 categories based on pathophysiologic mechanisms and functional defects: …

… There is preliminary evidence of a genotype-phenotype correlation, with missense mutations
… When mevalonate kinase is deficient, mevalonic acid accumulates and causes immune …

… Genotype–phenotype correlation and the role of NF2 genetic investigation in differentiating
… Genotype–phenotype correlation in NF2 Generally, NF2 due to truncating mutations (…

… mutations in the gene encoding for mevalonate kinase (MVK) on chromosome 12 [44].
According to the residual enzyme activity, the clinical spectrum … genotype-phenotype correlation. …