Table 1

Clinical and biological features of the proposita and family members

Age (years)SexESR (mm/h)CRP (mg/mL)ANARFIgA (U/mL)IgD (U/mL)MVK mutationMVK
enzymatic activity in lymphocytes (µkat/kg prot)
Urinary mevalonic acid (mmol/mol creatinine)MVK enzymatic activity in skin fibroblasts (pmol/min/mg prot)MVK enzymatic activity in skin fibroblasts (% of control)
Symptomatic patient43F11 11/320absent5.82690V377I/V377I0.33.1 ; 4.1183
Asymptomatic sister (subject 1)40F 3 11/320absent2.58140V377I/V377I0.31.7386,5
Mother (subject 2)69F10 41/320absent4.54<22wt/V377I0.516029
Father (subject 3)66M30331/320absent3.37<22wt/V377I117532
  • ANA, antinuclear antibody; CRP, C reactive protein; ESR, erythrocyte sedimentation rate; MVK, mevalonate kinase; NA, not applicable; RF, rheumatoid factor; wt, wild-type allele.